Incontro congiunto

GdL Genetica Clinica SIGU - SIMGePeD

Lunedì, 22 Gennaio 2018

Sala Riunioni Ordine dei Medici di Venezia - Via Mestrina, 86 - 30172 Venezia Mestre

10,45-11,00 Registrazione dei partecipanti

11,00-11,30 Comunicazioni dei Coordinatori GdL Genetica Clinica, Presidente SIMGePeD - Andrea Bartuli (Roma), Corrado Romano (Troina)

11,30-13,30 Dal sintomo alla diagnosi. Discussione interattiva di Casi clinici - Angelo Selicorni (Como), Alessandra Renieri (Siena)

13,30-14,30 Light Lunch

MODERATORI: Luigi Memo (Belluno), Corrado Romano (Troina)

14,30-15,00 Ipofosfatasia - Gioacchino Scarano (Benevento)

15,00-15,30 Segni cutanei: quando pensare a una genodermatosi - Mario Cutrone (Mestre)

15,30-16,00 NF1: dal sospetto diagnostico al follow-up - Maurizio Clementi (Padova)

16,00-16,30 Proposte di Ricerche Collaborative

Moderatore: Corrado Romano (Troina)

16,30-17,00 WES e nuovo ruolo del genetista clinico: non solo diagnosi e soprattutto non lasciamoli soli dopo - Romano Tenconi (Padova)

17,00 Chiusura dei lavori

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Incontro Congiunto GdL Genetica Clinica – SIGU e SIMGePeD

02 Ottobre 2017

Aula Magna, Palazzo del Rettorato - Via Banchi di Sotto, 55

SIENA

10,30-10,45

Registrazione dei partecipanti

10,45-11,00

Alessandra Renieri: Saluti di benvenuto ed introduzione

11,00-11,30

Comunicazioni:

Alessandra Renieri - Coordinatore GdL Genetica Clinica - SIGU

Andrea Bartuli – Presidente SIMGePeD

11,30-13,00

Animatori: Maria Antonietta Mencarelli, Anna Maria Pinto

Discussione casi clinici

• Currò

• Lopergolo

• Graziano

• Ciaccio - Prada

13,00-14,00

Light Lunch

Moderatori: Caterina Lo Rizzo, Mirella Bruttini

14,00-15,00

Lettura "Diagnosi genetica preimpianto"

Relatori: Luca Mencaglia e Alessandra Renieri

15,00-15,30

Francesca Ariani: VUS, BRCA1/2 e analisi mRNA

15,30-16,00

Alessandra Renieri: Network for Italian Genomes (NIG)

16,00-16,30

Matteo Della Monica e Marcella Zollino: Carichi di lavoro del genetista clinico

16,30-16,45

Verifica finale dell'apprendimento

16,45-17,00

Chiusura dei lavori

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Incontro Congiunto GdL Genetica Clinica SIGU - SIMGePeD - SIP

26 Giugno 2017

Aula Ascoli - Policlinico "P. Giaccone" - Palermo

10,30-10,45

Registrazione dei partecipanti

10,45-11,30

Saluti istituzionali

Fabrizio Micari - Rettore Università degli Studi di Palermo

Francesco Vitale - Presidente Scuola di medicina e Chirurgia Università degli Studi di Palermo

Marcello Ciaccio - Presidente Società Italiana di Biochimica Clinica

Alessandra Renieri - Coordinatore GdL Genetica Clinica

Andra Bartuli - Presidente SIMGePeD

Anna Giammanco - Direttore Dipartimento di Scienze della Salute e Materno-Infantile "G. D'Alessandro"

Giovanni Corsello - Direttore Dipartimento Materno Infantile I.S.M.E.P. - ARNAS Civico, Palermo

I SESSIONE

Conducono: Luigi Memo, Teresa Mattina, Corrado Romano

11,30-13,00

Discussione casi clinici (Luigi Memo, Teresa Mattina, Corrado Romano)

1) Dott.ssa Ciaccio - Specializzanda Genetica Medica Università di Milano

2) Dott.ssa Tranchina - Specializzanda Genetica Medica Università di Bologna

3) Dott.ssa Nicotra - Specializzanda Genetica Medica Università di Catania

4) Dott.ssa Mannino - Specializzanda Genetica Medica Università di Catania

5) Dott.ssa Currò - Specializzanda Genetica Medica Università di Siena

6) Dott. Guarnaccia - Medico Specialista in Genetica Medica

7) Dott. Lopergolo - Specializzando Genetica Medica Università di Siena

13,00-14,00

Light Lunch

II SESSIONE

Presiede: Lorenzo Pavone

Conducono: Raffaele Falsaperla, Martino Ruggieri

14,00-15,00

Lettura: Mosaicismi nei difetti di imprinting

Andrea Riccio

15,00-15,30

Mosaicismi nelle anomalie cromosomi che anche criptiche

Maria Piccione

15,30-16,00

I disordini dello sviluppo sessuale

Luigi Tarani

16,00-16,30

Verifica finale dell'apprendimento

16,30

Chiusura dei lavori

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GdL Genetica Clinica: II meeting annuale 2017

GdL Genetica Molecolare: I meeting annuale 2017

24 Marzo 2017

Aula Magna 2° piano, Ospedale Meyer, Firenze

10,30-10,45

Registrazione dei partecipanti

10,45-11,00

Matteo Della Monica: Saluti di benvenuto ed introduzione

11,00-11,30

Comunicazioni:

Alessandra Renieri - Coordinatore GdL Genetica Clinica

Enrico Tagliafico - Coordinatore GdL Genetica Molecolare

Andrea Bartuli - Presidente SiMGePed

11,30-13,00

Discussione casi clinici (Matteo Della Monica ed Elena Andreucci)

- Dott.ssa Carli

- Dott.ssa Fortunato

- Dott.ssa Pelle

- Dott.ssa Currò

- Dott. Lopergolo

- Dott. Spinelli (caso 1 e caso 2)

- Dott.ssa Pollazzon

- Dott. Ivanovski

- Dott. Mauro

- Dott.ssa Rosato

13,00-14,00

Light Lunch

14,00-15,00

Seminario "Genome prescription in apparently monogenic renal diseases"

Relatore: Aldesia Provenzano

Moderatori: Anna Maria Pinto e Francesca Mari

15,00-15,20

Enrico Tagliafico: Carichi di lavoro del laboratorio di Genetica Molecolare

15,20-15,40

Giovanni Battista Ferrero - Giuseppe Zampino - Matteo Della Monica: Carichi di lavoro del genetista clinico per consulenza genetica e presa in carico.

15,40-16,00

Livia Garavelli: Dysmorphology test on Face2Gene Academy

16,00-16,15

Romano Tenconi: News on therapy

16,15-16,30

Verifica finale dell'apprendimento

16,30-16,45

Chiusura dei lavori

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GdL Genetica Clinica

30 Gennaio 2017

Bologna

10,30-10,45

Registrazione dei partecipanti

Saluti: da parte del Prof. Marco Seri

10,45-11,30

Comunicazioni del Coordinatori GdL Genetica Clinica e presidente SiMGePed

(Alessandra Renieri - Andrea Bartuli)

11,30-13,00

Discussione di Casi clinici (Guido Cocchi e Laura Mazzanti)

- Dott.ssa Severi

- Dott.ssa Carli

- Dott.ssa Pelle

- Dott.ssa Curró

- Dott. Lopergolo

- Dott.ssa Pinto

- Collaboratore Prof. Cocchi

- Dott.ssa Scarano

- Dott.ssa Bedeschi

- Dott.ssa Sartor

- Dott.ssa Baldassarri

- Dott.ssa Peluso

13,00-14,00

Light Lunch

Moderatori: Marco Seri e Claudio Graziano

14,00-15,00

Lettura: Pseudo-ostruzione intestinale cronica: caratteristiche genetiche, funzionali e cliniche

(Prof. Roberto De Giorgio, Dr.ssa Elena Bonora)

15,00-15,15

Carichi di lavoro del Genetista Clinico (GB Ferrero)

15,15-15,30

News on exome sequencing in consanguineous families (Tommaso Pippucci)

15,30-15,45

News on therapy (Romano Tenconi)

15,45-16,00

News on Face2Gene (Nicole Fleischer)

16,00

Verifica finale dell’apprendimento.

16,30

Chiusura dei lavori

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Incontro Congiunto

GdL Genetica Clinica - SIGU e SIMGePeD

Lunedì, 19 Settembre 2016

Aula conferenze

Fondazione IRCCS Istituto Neurologico Carlo Besta - Via Amadeo 42 - Milano

10,30- 10,45

Registrazione dei partecipanti

10,45-11,30

Comunicazioni del Coordinatori GdL Genetica Clinica, presidente SiMGePed

(Alessandra Renieri - Luigi Memo)

11,30-13,00

Discussione di Casi clinici (Francesca Bedeschi - Chiara Pantaleoni)

13,30-14,30

Light Lunch

14,30-15,30

Contributo NGS alle patologie neurologiche ad elevata eterogeneità genetica (Franco Taroni)

15,30-16,00

News in Cornelia De Lange (Angelo Selicorni)

16,00-16,30

Disabilità intellettiva di grado lieve e array-CGH (Stefano D'Arrigo)

16,30-17,00

Articoli e spigolature e "spot on therapy" (Romano Tenconi)

17,00-17,30

L'articolo dell'estate (Silvia Maitz)

17,30

Verifica finale dell’apprendimento

18,00

Chiusura dei lavori

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Incontro congiunto

GdL Genetica Clinica SIGU - SIMGePed - SINP

13 Giugno 2016

Aula Magna, Corpo Aule e Biblioteche

A.O.U. "Policlinico Vittorio Emanuele", P.O. "G. Rodolico"

Via S. Sofia, 78 - Catania

ore 10,30

Registrazione dei partecipanti

ore 11,00

Saluti di benvenuto A. Renieri, L. Memo, R. Falsaperla, T. Mattina

ore 11,30

Casi clinici di neuropediatria / sindromologia: gli esperti si sfidano Animatori: T. Mattina, C. Romano)

ore 13,00

Come l'esoma salva la vita dei neonati A. Renieri, O. Zuffardi, A. Torella, M. Fichera

ore 13,30

Intervallo pranzo

Moderatori : L. Memo, S. D'Arrigo

ore 14,30

Lettura: Mosaicismi neurocutanei M. Ruggieri

ore 15,30

Novità in teratologia ambientale S. Bianca

ore 16,00

Nuovi tracciati EEG tipici di sindrome R. Falsaperla

ore 16,30

Saluti e conclusioni del GdL in Genetica Clinica A. Renieri, L. Memo, R. Falsaperla, T. Mattina

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Riunione Congiunta GdL Genetica Clinica, GdL Citogenetica e SIMGePeD

11 Aprile 2016

Centro Congressi Università Federico II - Aula Magna

Via Partenope,36 - Napoli

ore 10,45

Comunicazioni del Coordinatori

A. Renieri, A. Novelli e L. Memo

ore 11,30

Casi Clinici animatori M. L. Cavaliere, P. Zampino, L. Politano, D. Melis

Dott. Rinaldi

Dott. Della Monica

Dott. Fontana

Dott. Sirchia

Dott.ssa Carli

Dott.ssa De Maggio

Dott.ssa Gambale

Dott.ssa Miniero

Prof.ssa Zollino

Dott.ssa Alessandrella

13,30-14,30

Intervallo pranzo

Moderatori: A. Novelli e P. Strisciuglio

ore 14,30

Lettura Il metabolismo del ferro ed il suo controllo: una lezione delle malattie ereditarie A. Iolascon

ore 15,30

Progetto Telethon "Malattie non diagnosticate" V. Nigro

ore 16,00

Revisione alle linee guida per introduzione array-CGH in prenatale M. Gentile

ore 16,30

Focus su Sindrome di Morris A. Sinisi

ore 16,45

Focus su Terapie innovative sulle sindrome di Down I. Scala

ore 17,30

Saluti e prossimi incontri

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GDL congiunto Genetica Molecolare, Genetica Clinica e SIMGePeD

28 Gennaio 2016

Nuovi Istituti Biologici (MAMMUT) - Aula D5

Università di Ferrara

Via Fossato di Mortara, 17/19 - Ferrara

ore 10,00

Comunicazioni del Coordinatori A. Ferlini, L. Memo, A. Renieri

ore 10,30

Casi Clinici animatori F. Gualandi, S. Bigoni, A. Selicorni e M. Della Monica

Dott.ssa Pelle

Dott.ssa Garavelli

Dott.ssa Bedeschi

Dott. Della Monica

Dott.ssa Lo Rizzo

Dott.ssa Severi

Dott.ssa Sajeva

Dott. Trimarchi

Prof.ssa Bigoni

Dott.ssa Vicenzi

ore 13,00

Intervallo pranzo

ore 14,30

Lettura: Mosaicismi in sindromi "classicamente" non correlate al mosaicismo: come cambia il fenotipo? O.Zuffardi

ore 15,30

Facsimile referto laboratorio e annotazioni accompagnatore per il clinico: mantenerle o abolirle? M. Grasso

ore 16,30

Articoli e spigolature e spot on therapy

News &Views R. Tencon

ore 16,30

Trial clinici con antisenso nella distrofia muscolare A. Ferlini

ore 17,30

Saluti e prossimi incontri

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GDL congiunto Genetica Molecolare, Genetica Clinica e SIMGePeD

28 Settembre 2015

Aula Aziendale

PO O.I.R.M. - S. ANNA

A.O.U. Città della Salute e della Scienza di Torino

ore 10:45 Comunicazioni del Coordinatore e presentazione gruppi di genetica clinica regionali A. Renieri e L. Memo

ore 11:45 Casi Clinici animatori G.B. Ferrero ed E. Grosso

Caso 1 - S. Giangiobbe

Caso 2 - D. Carli

Caso 3 - A. Pelle

Caso 4 - F. Sirchia

Caso 5 - F. Gurrieri

Caso 6 - G. Mandrile

Caso 7 - M. Zollino

Caso 8 - M. Zollino

ore 13:30 -14:30 intervallo pranzo

hore 14:30 Condivisione protocolli di consulenza genetica, Tracce per report consulenze M. Clementi

ore 15:00 I risultati array CGH di significato incerto: gestione nelle consulenze post-natali e pre-natali F. Lalatta e G.B. Ferrero

ore 15:30 Confronto sull'argomento risultati array CGH di significato incerto F. Lalatta e G.B. Ferrero

ore 16:30 Articoli, Spigolature e "Spot on therapy" Romano Tenconi

ore 16:45 Verifica di apprendimento e valutazioni ECM E. Grosso

ore 17:30

Saluti e prossimi incontri

GDL congiunto Genetica Clinica e SIMGePeD

19 Giugno 2015

Sala Riunioni 1, Ampliamento

IRCCS Arcispedale S. Maria Nuova

Viale Risorgimento, 80

Reggio Emilia

ore 10:45 Comunicazioni dei Coordinatori GDL Genetica Clinica e Presidente SIMGePeD e presentazione gruppi di genetica clinica regionali A. Renieri e L. Memo

ore 11:30 Casi Clinici animatori L. Garavelli e A. Selicorni

caso 1 D. Carli

caso 2 A. Pelle

caso 3 M. Baldassarri

caso 4 M. Pollazzon

caso 5 I. Ivanovski

caso 6 G.B. Ferrero

ore 13:00 Condivisione protocolli consulenza genetica M. Clementi

ore 13:30 - 14:30 intervallo pranzo

ore 14:30 Sindromi genomiche: nuove acquisizioni diagnostiche e assistenziali C. Romano e G. Zampino

ore 16:00 Articoli, Spigolature e "Spot on therapy" Romano Tenconi

ore 16:45 Chiusura

Riunione congiunta SIMGePeD /SIFASD/ GdL Genetica Clinica ed Epigenetica della SIGU

9 Aprile 2015

Aula Magna del Dipartimento di Pediatria

Sapienza Università

Policlinico Umberto I

Viale Regina Elena 324

Roma

ore 10:45 Comunicazioni A. Renieri, L. Migliore e L. Memo

ore 11:15 Casi Clinici animatore G. Zampino

-Bambino di 2 anni e 9 mesi con malformazioni congenite, ritardo psicomotorio e caratteristiche faciali peculiari. G. Carignani (specializzanda) - A. Marozza (tutor)

-Bambino di 9 anni con deficit intellettivo e disturbo del comportamento. F.Gurrieri

-Bambina di 12 anni con ritardo cognitivo, emiparesi e angiomi cutanei. S. Maitz

-Ragazza di 22 anni con ritardo di crescita postnatale, lieve ritardo di sviluppo/deterioramento cognitivo, disprassia verbale nei primi anni di vita, insufficienza velofaringea e asimmetria degli arti inferiori. R.Tenconi

ore 12:45 - 13:30 Articoli e spigolature e "spot on therapy" R. Tenconi

ore 13:30 - 14:30 intervallo pranzo

ore 14:30 La sindrome feto-alcolica

-Dalla FAS alla FASD L. Memo

-Meccanismi patogenetici M. Fiore

-Epigenetica e FASD L. Migliore

-Aspetti clinici L. Tarani

-Diagnosi biochimica S. Pichini

-Conclusioni M. Ceccanti

ore 17:15 Chiusura

GDL CLINICAL GENETICS

30 January 2015

Ospedale Galliera, Genova

Aula Magna, second floor

Coordinator: Prof. Alessandra Reneri - University of Siena

10:45 a.m. Introduction and updates on the "Nomenclatore tariffario" for Genetics (coordinator: A. Renieri, Siena)

In memory of Franca Dagna Bricarelli

11:45 a.m. Clinical Cases (chair: Francesca Forzano)

STAR SYNDROME PLUS V. Fergnani (specializzanda) - F. Bedeschi (tutor). Discussant L. Garavelli

SMITH-MAGENIS SYNDROME C. Lo Rizzo (specializzanda) - A. Renieri (tutor). Discussant F. Bedeschi

RUBINSTEIN-TAYBI SYNDROME CORNELIA DE LANGE SYNDROME L.Garavelli. Discussant R.Tenconi

MACROCEPHALY/SUBDURAL HEMMORRHAGE V. Capra. Discussant A. Renieri

COFFIN-SIRIS SYNDROME? BARBER-SAY SYNDROME M. Della Monica. Discussant : C.Romano

PITT-HOPKINS SYNDROME F.Guarnaccia (specializzanda) - F. Lalatta (tutor). Discussant M. Della Monica

1:30-2:30 p.m. Lunch Break

2:30 p.m. Updates on the legislative decree on rare diseases (chair: Paola Facchin)

4:00 p.m. "Articoli e spigolature" (chair: Romano Tenconi)

5.15 p.m. Closing session and Departure

MEETINGS ON CLINICAL GENETICS

Italian Society of Human Genetics (SIGU)

19 September 2014

Istituto C.S.S. Mendel

Viale Regina Margherita, 261

Coordinator: Prof. Marcella Zollino- University "Sacro Cuore"- Roma

10:45-11:00 Greetings of the coordinator, M. Zollino (Roma).

11:00-13:00 Discussion of critical points of the document (relating to the previous meeting) "GUIDELINES FOR THE GENETIC DIAGNOSIS OF INTELLECTUAL DISABILITY" (.pdf)

11:00-11:30 Fragile-X syndrome analysis: clinically-guided indications or routine testing? Integration with previous guidelines. M. Della Monica (Benevento).

11:30-12:00 Microdeletion syndromes/haploinsufficiency: presentation of short clinical cards and targeted genetic testing (array-CGH vs sequencing / gene-specific MLPA). M. Zollino (Roma).

12:00-12:30 Diagnostic approach to RASopathies. M. Seri (Bologna).

The audience is invited to the discussion

13:00-13:30 Presentation of candidatures for the coordination of the Working Group of Clinical Genetics (years 2015-2017).

13:30-14:00 LUNCH BREAK.

14:00-16:30 Clinical cases (tot. 15).

16:30 Closing session and considerations.

GDL CLINICAL GENETICS

4 July 2014

Istituto C.S.S. Mendel

Viale Regina Margherita, 261

Coordinator: Prof. Marcella Zollino- University "Sacro Cuore"- Roma

Location, Country

11:00-16:00 Meeting for the development of the document:

"GUIDELINES FOR THE GENETIC DIAGNOSIS OF INTELLECTUAL DISABILITY".

The audience is invited to the discussion

Meeting minutes (.pdf)

GDL CLINICAL GENETICS

9 December 2013

POLICLINICO A. GEMELLI, AULA 617 (VI FLOOR)

L.go A. Gemelli, 8 - Roma

DIAGNOSTIC APPROACH TO INTELLECTUAL DISABILITY

10:45: Introduction of the coordinator: Prof. M. Zollino

11:00 Flowchart of the diagnostic procedures: from clinical evaluation of patients to the genetic

tests (a-CGH, gene sequencing, NGS). Which the limit for targeted genetic tests?

A. Rauch, Zürich, Switzerland

11:45 Stratification of patients into different clinical categories: a personal experience

M. Zollino, Roma

12:30 Proposal of evaluation criteria of VUS (CNVs and gene variants)

M. Genuardi, Firenze

13:15 Quick Lunch

14:00-16:30 ROUND TABLE

A. Rauch (Zürich), M.Tartaglia (Roma), M. Zollino (Roma) and all partecipants

Enrollment of patients into NGS

An informal clinical network encouraged

16:30 Final considerations (M. Zollino)

GDL CLINICAL GENETICS

31 May 2013

Coordinator: Prof. Marcella Zollino- University "Sacro Cuore"- Roma

HUNTINGTON DISEASE

Integrated pathway for clinical and molecular diagnosis

for genetic counseling

for prenatal diagnosis

10:45: Introduction. M. Zollino, Roma

11:00 Clinical Aspects. A. R. Bentivoglio, Roma

11:40 Genetic testing and pathogenesis M. Frontali, Roma

12:20 Genetic counseling P. Mandich, Genova .pdf

13:00 Evaluation of applicability the predictive test R. Rodriguez, Roma

13:45 Lunch Break

14:45:17:30 ROUND TABLE

M. Frontali, A. R. Bentivoglio, P. Mandich, R. Rodriguez

Criticality: prenatal diagnosis and predictive testing

17:30 Closing session and considerations. M. Zollino, Roma

GDL CLINICAL GENETICS

5 March 2013

Coordinator: Prof. Marcella Zollino- University "Sacro Cuore"- Roma

10:45

-Introduction and Greetings. A. Novelli (Roma), M. Zollino (Roma)

-Summary of the meeting of December 10, 2012. M. Zollino (Roma)

11:15

Development of a shared path in the application of the analysis of array-CGH in prenatal diagnosis:

-Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis. Lisa Shaffer (Spokane, WA)

12:30 Lunch Break

13:15 ROUNDTABLE:

Bruno Dallapiccola (Roma), Orsetta Zuffardi (Pavia), Leda Dalprà (Monza), Pietro Cavalli (Cremona), Mario Lituania (Genova), Antonio Novelli (Roma), Marcella Zollino (Roma)

- Route of application: pre-test genetic counseling, advices.

- Text of the informed consent

- Resolution of the CMA platform

16:30 Future plans

17:45 Closing session

INCONTRO CONGIUNTO GRUPPO di LAVORO di

GENETICA CLINICA e CITOGENETICA

SIGU

10 December 2012

Istituto C.S.S. Mendel

Viale Regina Margherita, 261

Ore 10:45: Saluti dei coordinatori A. Novelli (Roma), M. Zollino (Roma)

11:00-11:30 M. Zollino (Roma), A. Novelli (Roma) Introduzione al tema della giornata

Elaborazione di un percorso condiviso nell’applicazione dell’analisi di array-CGH, riguardo a:

1) Modalità di applicazione

2) Consenso informato

3) Consulenza genetica dedicata (Corso di formazione?)

4) Procedura diagnostica nei genitori (accertamento limitato alle CNVs o esteso anche alla diagnosi di riarrangiamenti bilanciati?)

5) Raccolta dati italiana di varianti rare ereditate a potenziale significato patogenetico

11:30-11:45 A. Novelli (Roma) “Position statement” in diagnosi prenatale

11:45-12:00 M. Zollino (Roma) Applicazione in diagnosi postnatale (documento “Tenconi”)

12:00- 12:15 M. Fichera (Catania) Esperienza con raccolta dati per CNV in epoca postnatale

12:15-12:30 L. Bernardini (Roma) Casistica di CNV diagnosticate in epoca prenatale

12:30-12:45 M. Seri (Bologna) Esempi di diagnosi e consulenze complesse

12:45-13:30 Pausa pranzo

13:30-16:00 TAVOLA ROTONDA con elaborazione finale di posizione condivisa sui punti 1-5.

Moderatori: O. Zuffardi (Roma), A. Novelli (Roma), M. Zollino (Roma)

16:00.16:30 Programmazione futura

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GDL CLINICAL GENETICS

20 April 2012

Coordinator: Prof. Marcella Zollino- University "Sacro Cuore"- Roma

10:45 Introduction and Greetings

Coordinator M. Zollino (Roma)

22q11 Deletion Syndrome:

-11:00 The phenotype in childhood and in adolescence-adulthood C. Digilio (Roma)

-11:40 Clinical cases on the subject (personal case studies, atypical presentations)

Smith-Magenis Syndrome:

-12:00 The phenotype in childhood and in adolescence-adulthood G. Zampino (Rome)

-12:30 The neurobehavioral phenotype S. D'Arrigo (Milano)

-13:00 Clinical cases on the subject (personal case studies, atypical presentations)

13:30 to 14:00 Lunch Break

14:00-14:30 Call for patients: Schinzel-Giedion syndrome (.ppt)

Angelman Syndrome:

-14:30 The underlying genetic defect F. Gurrieri (Roma)

-14:45 The phenotype in childhood and in adolescence-adulthood D. Greco (Troina)

-15:15 Epilepsy I.Contaldo (Roma)

-15:30 Clinical cases on the subject (personal case studies, atypical presentations)

16-16.45 Gestaltic Test M. Priolo (Cosenza), M. Zollino (Roma)

17.00

-ECM and Closing session.

XIV INCONTRO NAZIONALE DI GENETICA CLINICA

12-13 March 2012

Aula Brasca, Policlinico A. Gemelli

Roma

12 March

10:00 REGISTRATION

11:00 WELCOME AND INTRODUCTION Greetings from the President of the Italian Society of Human Genetics (SIGU)

G. Neri (Roma)

11:10 Inaugural readings Chairmen: G. Neri (Roma), R. Tenconi (Padova)

-The evolution of the human genome

A. Piazza (Torino)

-Constitutional genetic disease and cancer

A. Bellacosa (Philadelphia)

13:15 LUNCH BREAK

14:30 ROUND TABLE: New microdeletions and microduplication syndromes

Moderators: C. Romano (Troina), M. Zollino (Rome)

-Microduplication syndromes: the counterpart of "old" microdeletion syndromes

F. Forzano (Genova)

-New microdeletion/microduplication syndromes

M. Zollino (Roma)

-Genomic disorders and reversal polymorphisms

O. Zuffardi (Pavia)

-Microdeletion syndromes and tumors

M. Genuardi (Firenze)

16:30 COFFEE BREAK

17:00 PRESENTATION AND DISCUSSION OF CASES Moderators: A. Renieri (Siena), A. Selicorni (Monza)

Highlights:

-Follow-up: The diagnosis of Nicolaides-Baraitser s. was confirmed by the presence of a de novo mutation in SMARCA2 gene (Nat Genet 2012 Feb 26)

link to clinical case

-Exome sequence identified two mutations of the ASPM gene on chromosome 1: one stop mutatios on one allele (NM_018136:exon16:c.G3796T; p.E1266X) and one frameshift deletion on the other allele (NM_018136:exon18:c.7815_7816del; p.2605_2606del). The ASPM gene is abnormal spindle-like Microcephaly-associated; MIM#605481

18:30

-Closing session.

13 March

09:00 ROUNDTABLE: The craniosynostosis Moderators: S. Giglio (Firenze), G. Scarano (Benevento)

-History of craniosynostosis: evolution of ideas and therapies

C. Di Rocco (Roma)

-Clinical phenotypes

G. Zampino (Roma)

-Genetic diagnosis and genetic counseling

S. Giglio (Firenze)

-Taking charge and follow-up

S. Romano (Firenze)

11:00 COFFEE BREAK

11:30 PRESENTATION AND DISCUSSION OF CASESN Moderators: C. Galasso (Roma), F. Gurrieri (Roma)

13:00 LUNCH BREAK

14:00 ROUND TABLE: Klinefelter syndrome Moderators: L. Mazzanti (Bologna), S. Bernasconi (Parma)

-Prenatal diagnosis of Klinefelter syndrome

F. Lalatta (Milano)

Prenatal Diagnosis of Klinefelter syndrome: experience in 41 families

L. Tarani (Roma)

-Infancy and childhood

L. Mazzanti (Bologna)

-Adolescence: clinical and therapeutic aspects

M. Cappa (Roma)

-Adulthood: fertility and sexuality

C. Pelusi (Bologna), A. Franceschelli (Bologna)

16:00 GENERAL DISCUSSION AND PROGRAMMING FUTURE ACTIVITIES

17:00 Closing session and ECM

GDL CLINICAL GENETICS

11 Settembre 2011

Sala conferenze Presidenza Medicina

Via Costantinopoli 104, II piano, Napoli

Coordinator: Prof. Romano Tenconi - University of Padova

10:45

-Communications (R. Tenconi, PD)

11:00

Seminar (30m’-15m’ discussion):

- Genetic Cardiomyopathies (L. Politano, V. Nigro, NA). .ppt#1 .ppt#2

- Hereditary retinopathies: New therapeutic frontiers (A. Auricchio, NA)

12:30

Educational (20m '):

What I learned from the Master (F. Bedeschi, MI)

12:50

Presentation of candidates for the coordination of the Working Group of Clinical Genetics

13:30

Lunch break

14:00

Classroom exercises on a complex counselling (M. Seri Coordinator, BO) 30 m '

-Prenatal genetic counseling for familial 4q terminal deletion of 10 Mb identified in chorionic villi for umbilical cord cysts. What to do-to tell? (E. Pompili and G. Tortora, BO) .ppt

14:30

Papers in press / submitted:

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (letter), in press (doi:10.1038/nature10406) (A. Renieri, SI) .ppt

14:45

-Clinical cases

From clinical suspicion to unexpected diagnosis (45'; 10' discussion):

-Prenatal (F.Lalatta, MI)

-Neonatal (F. Bedeschi, MI)

-Pediatric (L.Politano, NA)

...moreover... Parental mosaicism in AD disease with complete penetrance (not true what is written on the transmission of Pitt-Hopkins syndrome) (M.Zollino, Roma)

NEW CLINICAL CASES

-Vitiello F.(Napoli) Just a Fragile-X or a new syndrome? Neri (Roma)

-Lo Rizzo C.(Siena) Growth deficiency, psychomotor retardation and brachydactyly Tenconi (Padova)

-Della Monica M. (Benevento) Facio-Digito-Genital s.?

-Marozza A. (Siena) VCF spectrum?

17.00

Closing session

GDL CLINICAL GENETICS

27 June 2011

Aula Magna 2 piano Padiglione C EO Ospedali Galliera, Genova

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

Commenti all'Incontro-Prof. Tenconi

10:45

Communications (R. Tenconi, PD)

11:00

Seminars (30m’-15m’ discussion):

-New answers to old diseases, treatments and care pathways in hemoglobinopathies and iron storage diseases (G. Forni, GE) File .ppt

-Beckwith syndrome: what's new? (M. Silengo, TO) File .pdf

12:30

Educational (20 m')

-Recommendations for thrombophilia testing. GdL of Ligurian Department of Genetics and Consensus conference ISS (P. Mandich, GE). File .pdf

12:50

Lunch Break (Kindly offered by the Ligurian Department of Genetics)

13:20

WHAT WOULD YOU DO?

Opinions comparison: (M. Zollino, Roma/R. Tenconi, PD)(15’-15’discussion):

1) Unbalanced translocation in a balanced carrier parent's son. Which relatives test? Grandparents, siblings of parents, others at risk in reproductive age (and children?).

2) Complete penetrance AD disease with mutation identified: do investigate the parents (how?) phenotypically healthy or simply advising PD for another pregnancy?

Classroom exercises on a complex/simulated consulting (coordinator M. Seri, BO) (20m’-10m’ discussion):

-A long way for a short-chain diagnosis (S.Miccoli, BO)

14:20

Current Projects

-Mutations analysis in epilepsy with custom aCGH and research of new genes. Some results. (M. Malacarne & D. Coviello, GE). 20’ discussion

14:40

Clinical cases: previously presented and new (8'm presentation- 4'm counter-report-8'm discussion)

-Greco D. (Troina-EN) CHARGE s.? (follow-up previously presented @ SIGU Meeting- Dismorphology Club- Florence, 15-17 October 2010

-Zollino M. (Roma) Cohen s. ? Tenconi (Padova)

-Pollazzon M. (Siena) Ectodermal Dysplasia? Della Monica (Benevento)

-Garavelli L. (Reggio Emilia) Frank-Ter Haar s. ? Romano (Troina-EN)

-Capra V. (Genova) Ectodermal Dysplasia, Fryns-Soekarman type ? Grosso (Torino)

-Faravelli F. (Genova) minor multiple fetal anomalies

17.00

Closing session

GDL CLINICAL GENETICS

18 April 2011

Aula Magna - 2 piano - Padiglione CEO Ospedali Galliera, Genova

Coordinator: Prof. Romano Tenconi - University of Padova

Commenti all'Incontro Prof. Tenconi

10:45

Welcome (F. Dagna, GE)

Communications (R. Tenconi, PD)

11:00

Seminars (30 m’ -15 m’ discussion):

- Cerebellar disease in children: diagnostic flow-chart (S. D’Arrigo & C. Pantaleoni, MI) file.ppt

- Genomics and bioinformatics analysis of DNA from patients with schizophrenia (Sergio Barlati, BS) file.ppt

12:30

Educational ( 20 m’)

- Gestaltic test on malformative syndromes (M. Priolo, RC)

13:00

Lunch break

13:30

The malformation syndromes in adulthood (20 m’)

- Natural history of 45 young adult patients with Williams syndrome: experience of more than 15 years (Am J Med Genet 2011;155A:353 and more)(MF. Bedeschi e A. Selicorni, MI) file .ppt

13:50

WHAT WOULD YOU DO?

-Classroom exercises on a complex consulting / simulated (moderatore M. Seri, BO)(30 m’): Myotonic confusion (S. Miccoli & C. Graziano, BO) file.ppt

-In genetic counseling should always check the diagnosis and look for good consultants (R. Tenconi, PD) file .ppt

14:20

Current projects:

- Update on the document of Clinical Genetics Workgroup: CMA as a diagnostic test of choice for the intellectual disabilities / behavioral disorders / malformations (R. Tenconi, PD)(10m’) file .ppt

Papers in press/submitted

14:30

Update of clinical cases already presented, and new presentations (8'm presentation- 4'm counter-report-8'm discussion)

-Della Monica M. (BN) Oberklaid-Danks/Bohring-Opitz s.? Giovannucci (FI)

-Gai G. (TO) Noonan-like s.? Faravelli (GE)

-Scuvera G. (MI) Familiar Treacher Collins syndrome: example of a wide phenotypic variability

-Mandrile G. (TO) Aspecific Intellectual Deficit Romano (Troina)

-Uliana V. (GE) Simpson-Golabi-Behemel s.? Zollino (RM)

-Cocchella A. (GE) Connective tissue disorder? Grosso (TO)

17.00

Closing session

GDL CLINICAL GENETICS

13 Dicembre 2010

Aula didattica Presidenza Medicina, Polo Didattico Murri

Policlinico Sant’Orsola-Malpighi, Bologna

Coordinator: Prof. Romano Tenconi - University of Padova

10:45

Communications (R. Tenconi, PD)

11:00

Seminar (30m’-15m’ discussion):

-Loeys-Dietz Syndrome (M. Colombi, BS)

11:45

Are we ready for the clinical application of Next Generation Sequencing?

- Introduction: O. Zuffardi (PV) 5m’

- an example of clinical application: exome shared in homozygosis in the two children of consanguineous brothers with a complex form of leukodystrophy (T. Pippucci, BO) 15 m’

- TR: Update on NGS in Italy (S. Giglio, FI; M. Iascone, BG; A. Renieri, SI; M. Seri, BO; M. Tartaglia, Roma; O. Zuffardi, PV) 30 m’+Discussion 15 m’

12:50

Educational:

-Gestaltic test on malformative syndromes (M. Priolo, RC) 20m’

13:10

Lunch Break

13:40

Classroom exercises on a complex/simulated consulting (coordinator M. Seri, BO) 30m’: Myotonic confusion (C. Graziano, BO)

14:10

Current Projects:

-Glossary of morphological terms: simplified ears, ears with calcified cartilage (M. Della Monica, BN) 15m'

-GdL document of Clinical Genetics SIGU: Chromosomal Microarrays Techniques for genetic diagnosis of intellectual disabilities and birth defects (3rd version) (R. Tenconi, PD) 10m'

-CBCD European project: molecular basis of congenital defects of the cerebellum and brainstem. Clinical characterization and molecular neuro-developmental model in vitro embryo. (ME Valente-Roma) 15m’

Papers in press/submitted:

-Limb-Pelvis-Uterus Hypoplasia/Aplasia. AJMG in press (L. Garavelli and coll. RE) 10m'

15:00

Clinical cases: previously presented and new (8'm presentation- 4'm counter-report-8'm discussion)

-Doz (Milano) Frontoparietal Bilateral Polymicrogyria? Valente (Roma)

-Gnoli (Bologna) Overgrowth s.? Magnani (Parma)

-Ragni (Bologna) Malpuech s.? Romano (Troina)

-Garavelli (Reggio Emilia) Nicolaides-Baraitser s.?* Tenconi (Padova)

--Marangi (Roma) 3C s.? Seri (Bologna)

-Marozza (Siena) Silver-Russel like s.? Della Monica (Benevento)

-Vancini (Bologna) Kabuki s.? Mazzanti (Bologna)

*Follow-up March 13, 2012: The diagnosis of Nicolaides-Baraitser s. was confirmed by the presence of a de novo mutation in SMARCA2 gene (Nat Genet 2012 Feb 26)

17.00

Closing session: Greetings and Best Wishes

GDL CLINICAL GENETICS

20 September 2010

Aula didattica Presidenza Medicina, Polo Didattico Murri

Policlinico Sant’Orsola-Malpighi, Bologna

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10.45

Communications (R. Tenconi, Padova)

11.00

Seminars (30 m’+20 m’ discussion)

Two-hit model for severe developmental delay (Nat. Genet 2010;42;203):

- the fact (C. Romano, Troina) ppt.file

- understanding variable expressivity in microdeletion syndromes (Nat Genet 2010;42:192). "OZ version" (O. Zuffardi, PV)

11.45

Practical disputes in Clinical Genetic

Array-CGH as first choice diagnostic test for the intellectual deficit? In Italy: pros and cons (O. Zuffardi vs M. Priolo) (15 m’+ 20 m’ discussion)

12.40

Educational:

Gestaltic test of malformative syndromes (M. Priolo, RC) 20m’

13:10

Lunch break

13.40

"Classroom training" on a complicated/simulated counselling (moderator: M. Seri, BO)"When prenatal diagnosis by genetic tests predictive of a late-onset neurological disorder leads to a diagnosis in the parent. Experience with a family with his grandfather suffers from spastic paraplegia. You what would you have done for us?" .ppt file

30 m’

14.20

Projects: in progress

-Glossary of morphological terms: Long Ears / asymmetrical ears (Magnani, PR) 10m' .ppt file

-How has been transposed document "Ricontatto"(contacted again)? (See Approval documents of the site) (Belli, TN) 10'm .ppt file

Projects: new

Attitude of Clinical Geneticists towards Chromosomal Microarrays (CMA) as diagnostic tool for mental retardation and congenital anomalies: a survey on an Italian sample (Di Maria, GE) 10'm .ppt file

14:50

Professional experiences abroad (10'm)

Institute of Medical Genetics, University Hospital of Wales, Cardiff (UK) by Angus Clark (2009) (Uliana, SI-GE) .ppt file

15:00

Clinical cases (8'm presentation- 4'm counter-report-8'm discussion)

-Magnani (Parma) FG s? Tenconi (PD)

-Bedeschi (Milano) Fryns s. VS Spondylo costal dysostosis? ?

-Wischmeijer (Reggio Emilia) Arterial tortuosity s.? Tenconi (PD)

-Palka (Chieti) Lowe s.? Della Monica (BN)

-Castagnini (Siena) MR & palpebral ptosis: Rubinstein-Taybi s.? Romano (EN)

-Alfei (Milano) Cohen s.? Renieri (SI)

*-Doz (Milano) Frontoparietal Bilateral Polymicrogyria? ?

*-Gnoli (Bologna) Overgrowth s.? ?

*-Ragni (Bologna) Malpuech s.? ?

*postponed to next meeting

17.00

Closing session

GDL CLINICAL GENETICS

21 Giugno 2010

Roma

Università Cattolica del Sacro Cuore

Aula Moscati, Istituti Biologici

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10.45

- Communications (R. Tenconi, Padova)

11.10

- Seminars

- Long-term therapy with recombinant insulin-like growth factor in a child with IGF-1 gene mutation (P. Strisciuglio & D. Concolino, Napoli) (20m’ + 5 m’ discussion) file .pps

- Employment of autologous erythrocytes for drug administration in patients with genetic diseases (M. Magnani, Dip. Scienze Biomolecolari, Urbino) (30m’ + 10 m’ discussion) file .pps

- Psychiatric aspects and social-assistance needs in young adults with complex malformative syndromes (F. Bedeschi e E. Colombo, MI) (30m’ + 15m’ discussion) file .pps

13.00

- Educational

Gestaltic test of malformative syndromes (M. Priolo, RC) 20m’

13.20

- Lunch break

13.50

Projects: new and in progress

-Glossary of morphological terms: atresic or absent auditory meatus, absent or hypoplastic tragus, cleft lobule (O. Calabrese, IM) (10') file .pps

-Good use of morphologic terms to arrive at diagnosis (Ein unförmig Spass) (R. Tenconi, PD) (5')

-Comments on "Challenges in the clinical application of whole-genome sequencing" (Lancet 2010; 375:1749) and an interesting collaborative proposal (A. Renieri, SI) (15+5' discussion)

14:25

-An instructive case (10'+20' discussion):

"Looks can be deceiving": a simple diagnostic double deception (M. Zollino, RM) file .pps

14.55

Follow-up of previously presented cases:

-L. Garavelli (Reggio Emilia) CFC/Costello s. ? presented on April 12, 2010 Discussant : G. Neri (Roma)

-D. Greco (C. Romano, Troina)/ M. Priolo (RC) Treacher-Collins s.? presented on September 21, 2009 and two cases of OAV

Discussant : E. Tarantino

Presentation and discussion of new cases:

-S. Boni (Belluno) Angelman-like s.? Discussant : M. Zollino (Roma)

-I. Mammi (Dolo-VE) Acrocallosal s.?

-M. Accadia (Lecce) CHARGE s.? Discussant : M. Della Monica (Benevento)

17:00

End of meeting

GDL CLINICAL GENETICS

12 April 2010

Roma

Università Cattolica del Sacro Cuore

Aula A. Gemelli, Istituti Biologici

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10:45

- Communications (R. Tenconi, Padova)

11:00

Seminars:

- Epigenetics and neurodegenerative diseases (Fabio Coppedè, Pisa) file.ppt

- From clinical practice to gene using several diagnostic evaluations including next-generation sequencing (L. Volpi, Milano and D. Concolino, Catanzaro). file .ppt

- Pitt-Hopkins syndrome: an update (M. Zollino, Roma) file .ppt

12:45

Educational:

Gestaltic test of malformative syndromes (Priolo, Reggio Calabria)

13:10

Lunch Break

13:40

Projects: new and in progress

- How would I organize clinical/genetic follow-up of patients/families in genetic counselling (S. Belli, Trento) file .ppt

- Morphologic Glossary: "Macrotia", "Microtia" and "Low set ears" definition. (F. Bedeschi, Milano) file .ppt

Communications:

- ISO certification experience, adjustment to SIGU reccomendation and reflections about clinical genetics units (A. Renieri, Siena) file .ppt

14:30

Clinical cases

Pitfalls in prenatal genetic counselling:

- Cohen syndrome prenatal genetic counselling: directiveness vs no-directiveness? (F. Mari, Siena and P. Gasparini, Trieste)

Follow-up of previously presented cases:

Presented by Diagnostic suspicion Discussant

E. Lapi (Firenze) CFC s.? presented on April 18th, 2005 C. Romano (Troina, EN)

Presentation and discussion of new cases:

Presented by Diagnostic suspicion Discussant

L. Garavelli (Reggio Emilia) CFC/Costello s. ? G. Neri (Roma)

I. Mammi (Dolo-VE) Kabuki s.? M. Priolo (Reggio Calabria)

E. Alfei (Milano) Smith-Magenis s.? E. Tarantino (Pisa)

M. Pollazzon (Siena) Noonan spectrum? P. Guanciali Franchi (Chieti)

G. Marangi (Roma) PWS/AS spectrum? M. Della Monica (Benevento)

A. Baroncini (Imola) MCA/MR?

17.00

Closing session

GDL CLINICAL GENETICS

14 December 2009

Pisa

aula Clinica Pediatrica,

AOU Pisana, Ospedale Santa Chiara - Pisa

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10.45

Communications (R. Tenconi, Padova)

- Comments on SIGU congress and on Clinical Genetics meeting (Head to Head in clinical genetics. Will clinical geneticists deliver real benefits for patients?

YES: E. Di Maria Genova, MAYBE: P. Cavalli Cremona) pdf file

11.15

Seminars:

- Analysis of candidate genes driven by the clinic: two examples (M. Seri & C. Graziano, Bologna) ppt file

- Classifications of ichthyoses (G. Tadini, Milano) ppt file

Bringing up to date:

Gene expression profiling in Noonan syndrome (G.B. Ferrero, Torino)

13:00

Educational:

- Gestalt test in malformation syndromes (M. Priolo, Reggio Calabria)

13:20

Break

13:50

Ongoing projects:

- Follow-up and re-contact of families. Ready (S. Belli, Trento) ppt file

- Glossary of morphological signs: definition of external ears position (M.F. Bedeschi, Milano) ppt file

14:00

Papers in press/submitted

- Eyebrow anomalies as a diagnostic sign of genomic disorders (M. Silengo et al. Torino, Pavia & Seattle)

14.10

Dysmorphology pitfalls in adult patients:

Diagnostic odyssey ends with the diagnosis made by the patient’ sister (E. Tarantino, Siena). And more…

Presentation and discussion of new cases:

Presented by Diagnostic suspicion Discussant

M. Doz (C. Pantaleoni, Milano) Smith-Magenis s.? G. Scarano

E. Alfei (C. Panaleoni, Milano) Angelman s.? M. Mari

E. Trevisson (R. Tenconi, Padova) Kallmann s. and XL ichthyosis? G. B. Fererro

K. Ludwig (R. Tenconi, Padova) Cleidocranial Dysostosis ?

A. Marozza (A. Renieri, Siena) Rubinstein-Taybi s.?

17.00

Conclusions and Christmas greetings

GDL CLINICAL GENETICS

3 December 2007

CEINGE Biotecnologie Avanzate

Via Comunale Margherita 482 - Naples

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10:45

Communications and comment about the 2007 SIGU meeting (R. Tenconi, PD)

11:00

Seminars:

- Genetic components of asthma (G. Malerba, VR)

- TBX1 and DiGeorge syndrome(A. Baldini, NA)

12:30

Ongoing projects:

- Italian Microdeletion/microduplication Project (C. Romano, Troina)

Educational

- Gestaltic test of malformation syndromes (M. Priolo, RC)

13:00

Light lunch

13:40

Papers in press

Array-CGH in epilepsy and neuronal migration defects (F. Novara, PV)

14:10

Paper submitted and last minute

Clinical criteria for the Zappella variant of the Rett syndrome (preserved speech variant) (F. Mari, SI) download file pdf

14.30

Follow-up of previously presented cases:

Presented by A. Fabretto (A. Amoroso, Trieste) Diagnostic suspicio nMowat-Wilson s.? presented on 6th December 2004

by S. Bert ok (A. Amoroso, Trieste) DiscussantM. L. Giovannucci

Presentation and discussion of new cases:

Presented by M. Priolo (Reggio Calabria) Diagnostic suspicio nChromosomal/genomic anomaly? Discussant R. Tenconi

Presented by L. Salviati (R. Tenconi, Padova) Diagnostic suspicio nCHARGE/VACTERL? Discussant M. Priolo

Presented by A. Marozza (A. Renieri, Siena) Diagnostic suspicion Pitt-Hopkins s.? Discussant M. Della Monica

Presented by M. Della Monica (G. Scarano, Benevento) Diagnostic suspicio nHennekam Lymphagiectasia-lymphedema s.?

Discussant C. Romano

17.00

Closing session

GDL CLINICAL GENETICS

24 September 2007

CEINGE Biotecnologie Avanzate

Via Comunale Margherita 482 - Naples

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10.45

Welcome of Prof. Franco Salvatore

Communications (R. Tenconi, Padova)

11.00

Seminars :

- Crisponi syndrome: a "familial" syndrome (L. Crisponi, Cagliari)

- Pathogenetic reclassification of ataxias (S. Cocozza, Napoli) download ppt file

12.30

Projects in progress:

-Glossary of dysmorphologic signs: results of the survey on the definition of cryptophthalmos, symblepharon, ablepharon (A. Baroncini, Imola)

- Master in Clinical Genetics: Multiple Congenital Anomalies

- External Physical Examination of Induced Abortions (P. Bianchi, Bergamo)

13:00

Light lunch

13.30

Miscellanea:

- News from the 3rd DECIPHER Symposium at Hinxton (Cambridgeshire): DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensemble Resources

(A. Renieri, Siena)

- Gestalt test for malformation syndromes (M. Priolo, Reggio Calabria)

- Beckwith and Silver-Russel syndromes: first results of a new molecular test in Italy (M. Priolo, Reggio Calabria - A. Riccio, Napoli)

- First results of the SAGE (Survey on Attitude of Italian Geneticists towards Eponyms) project questionnaire (E. Di Maria GE)

14.30

Follow-up of previously presented cases:

Presented by S. Marelli (R. Borgatti, Bosisio Parini) Diagnostic suspicion CHARGE a.? presented on June 25th, 2005 Discussant

G. B. Ferrero

Presentation and discussion of new cases:

Presented by M. A. Mencarelli (A. Renieri, Siena) Diagnostic suspicion Urorectal septal defect Discussant G. Scarano

Presented by M. Della Monica (G. Scarano, Benevento) Diagnostic suspicion Coffin-Siris s.? Discussant G. Andria

Presented by D. Greco (C. Romano, Troina) Diagnostic suspicion Microcephaly/blepharophimosis Discussant M. Zollino

Presented by D. De Brasi (G. Andria, Napoli) Diagnostic suspicion Weill-Marchesani s.? Discussant C. Romano

17.00

Closing session

GDL CLINICAL GENETICS

25 June 2007

Aula Sforza, Ospedale Policlinico

Via Commenda, 16 - Milano

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10.45

Communications

11.00

Seminars on neuro-cardio-facio-cutaneous syndromes:

- Deregulation of the Ras pathway and Noonan syndrome (M. Tartaglia, Roma)

- Noonan syndrome and related disorders: genotype-phenotype correlations (Bruno Dallapiccola, Roma)

12.30

Guideline proposal:

- Networking and rare diseases: some preliminary suggestions from the skeletal dysplasia experience (A. Superti-Furga, Freiburg, Germany)

- Italian Skeletal Dysplasia Network (L. Sangiorgi, Bologna, F. Lalatta, Milano) download ppt file

- The diagnostic work-up for fetal malformations (F. Lalatta Milano) download ppt file

13:30

Light lunch

14.30

Presentation and discussion of new cases:

Presented by L. Garavelli (Reggio Emilia) Diagnostic suspicion Smith-Magenis s.? Discussant C. Romano

Presented by L. Boccone (Cagliari) Diagnostic suspicion Myhre growth-mental deficiency s. ? Discussant M. Priolo

Presented by V. Uliana (A. Renieri, Siena) Diagnostic suspicion Kabuki s.? Discussant R. Tenconi

Presented by M. Priolo (Reggio Calabria) Diagnostic suspicion Noonan s.? Discussant D. Milani

Presented by M. Bellini (A. Selicorni, L. Larizza, Milano)Diagnostic suspicion Wiedemann-Steiner s.? Discussant L. Garavelli

Presented by M. F. Bedeschi (F. Lalatta, Milano) Diagnostic suspicion Cohen s.? Discussant A. Selicorni

17.00

Closing session

2 April 2007

Aula Magna, Clinica Mangiagalli

Via Commenda, 12 - Milano

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10.45

Communications (R. Tenconi, Padova)

11.15

Seminars on connective tissue syndromes with cardiovascular anomalies:

- Marfan and Marfan-like syndromes (E. Arbustini, Milano)

- Arterial tortuosity syndrome. Clinical aspects, gene identification and possible function (M. Colombi, Brescia)

12.45

Professional experiences in other countries: Groningen and Amsterdam (A. Wischmejier, Bologna) download ppt file

Projects in progress:

- Physical examination when skeletal dysplasia is suspected (G. Canepa, Merate, LC - M.F. Bedeschi, Milano) download ppt file

- Clinical morphology glossary: new definitions (A. Baroncini, Imola)

13.30

Lunch break

14.00

Follow-up of previously presented cases:

-Presented by F. Mari (A. Renieri, Siena) Diagnostic suspicion: Microduplication 17p11.2 presented on December 15th, 2003 M. Discussant : Della Monica

-Presented by F. Mari (A. Renieri, Siena) Diagnostic suspicion: Cohen presented on September 27th, 2004 M. F. Bedeschi

-Presented by I. Mammi (Dolo, Padova) Diagnostic suspicion: Kaufman-McKusick s.? presented on 1998-99

M. Della Monica (G. Scarano, Benevento) Diagnostic suspicion : Microdeletion 16q24.2 presented on October 10th, 2005 Discussant A. Baroncini

14.30

Presentation and discussion of new cases:

Presented by M. L. Giovannucci Uzielli (Firenze) Diagnostic suspicion Nevo s.? Discussant G. B. Ferrero

Presented by T. A. Wischmeijer (M. Seri, Bologna) Diagnostic suspicion Angelman s.? Discussant D. Greco

Presented by A. G. Del Monaco (M. Silengo, Torino) Diagnostic suspicion Mulvihill-Smith s.? Discussant C. Danesino

Presented by M. A. Mencarelli (A. Renieri, Siena)Diagnostic suspicionOhdo-Blepharophimosis s.?Discussant A. Selicorni

Presented by L. Mazzanti (Bologna) Diagnostic suspicion Okihiro s.? Discussant L. Salviati

Presented by M. Bordignon (R. Tenconi, Padova) Diagnostic suspicion Noonan s.? Discussant M. Silengo

Presented by S. Marelli (R. Borgatti, Bosisio Parini) Diagnostic suspicion Mowat-Wilson s.? Discussant L. Garavelli

17.00

Closing session

12 December 2006

Istituto Mendel - Roma

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10.45

Comments about our group (R. Tenconi, Padova)

11.00

Seminars on genomic rearrangements and CGH-arrays:

- Expected and unexpected data on 420 individuals with mental retardation/congenital anomalies and normal karyotype and 186 individuals with chromosome imbalance identified by traditional techniques (O. Zuffardi, Pavia)

- Old and new syndromes identified by array CGH: the experience of Siena (Alessandra Renieri, Siena)

12.20

Projects in progress:

- Glossary of dysmorphologic signs (A. Baroncini, Imola)

New clinical signs:

- blefaron, anchiloblefaron (O. Calabrese, Ferrara)

- ectropion, entropion (M. Zollino, Roma)

13.00

Professional experiences in other foreign centres: Clinical Genetics in Middle East (Anwar Baban, Gaslini, Genova)

13.15

Lunch break

13.50

Comments and suggestions for the new SIGU regulation

14.30

Follow-up of previously presented cases:

Speaker F. Mari (A. Renieri, Siena) Case : Mowat-Wilson s.? (June 23, 2003) Cospeaker : M. Priolo

Clinical cases presentation and discussion:

Speaker M. Della Monica (G. Scarano, Benevento) Case : Beals s.? CospeakerR. Tenconi

Speaker F. Natacci (F. Lalatta, Milano) Case : Facio-auricolo-thoracic s.? Cospeaker G. Scarano

Speaker C. Magnani (Parma) Case: Geroderma Osteodysplasticum? Cospeaker M. Zollino

Speaker V. Uliana (A. Renieri, Siena) Case: Pallister-Killian s.? Cospeaker L. Garavelli

Speaker M.F. Bedeschi (F. Lalatta, Milano) Case: Mitochondrial ataxia? Cospeaker R. Salviati

Speaker F. Brancati (B. Dallapiccola, Roma) Case: Coffin-Siris s.? Cospeaker D. Greco

17.00

Closing session

18 September 2006

Istituto Mendel - Roma

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10.45

Welcome of Prof. B. Dallapiccola and sundry comments (R. Tenconi, Padova)

11.00

Seminars:

- Joubert syndrome and correlated syndromes: Genotype-phenotype correlations (E. M. Valente, Roma) download pdf file

- Q10 coenzyme deficit: An example of curable genetic disease (L. Salviati, Padova) download ppt file

12.15

Projects in progress:

- Glossary of dysmorphologic signs (A. Baroncini, Imola)

- approval of the "temporary" signs inserted in this site (hypo- and hypertelorism) and of telecanthus and dystopia canthorum (presented by S. Bigoni

on june 5th)

- presentation of cryptophthalmos and blepharophimosis (M.F. Bedeschi)

13.00

Lunch break

13.30

Discussion about the document on the Clinical Genetics activity: Diagnostic approach methodology to the clinical case

- approval of the document "Analysis of the phenotype" by C. Romano (which will be sent by mail to all t the beginning of September)

- presentation of the document on the consent for clinical photographs (M. Priolo, Reggio Calabria - R. Tenconi, Padova)

- presentation of the document on the genetic tests (molecular) in the practice (A. Renieri, Siena)

14.45

Clinical cases presentation and discussion:

-Speaker Garavelli L. (Reggio Emilia)CaseMitochondrial d.?Cospeaker Pantaleoni

-Speaker C.Bordignon M. (Tenconi R., Padova)Case Silver-Russel s.? Cospeaker Priolo

-Speaker M.Magnani C. (Parma)Case Lowry-Wood s.?Cospeaker Dallapiccola B.

-Speaker D'Arrigo S.(Pantaleoni C., Milano)Case Cohen s.?Cospeaker Romano C.

-Speaker Castori M. (Dallapiccola B., Roma)Case Cooks s.?Cospeaker Scarano G.

-Speaker Palka C. (Dallapiccola B., Roma)Case Geroderma Osteodysplasticum?Cospeaker Della Monica

-Speaker M.D'Amato G. (Dallapiccola B., Roma)Case Varadi-Papp s.?Cospeaker Priolo M.

17.00

Closing session

05 June 2006

Aula Sforza

Ospedale Policlinico - Milano

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

Ore 10:45

Sundry comments (R. Tenconi, Padova)

11.00

Seminar:

- Molecular bases of the orofaciodigital syndrome type I (B. Franco, Napoli) download ppt file

11.45

Forthcomings:

- A new gene of De Lange syndrome (A. Selicorni, Milano) download ppt file

- Phenotype of duplication reciprocal to Williams deletion (I. Ricca, Pavia)

12.15

Projects in progress:

- Glossary of dysmorphologic signs (A. Baroncini, Imola)

- approval of hypotelorism, hypertelorism, epicanthus

- presentation of telecanthus (S. Bigoni, Ferrara)

- Professional experiences in other foreign centres, Haidelberg, Germany (F. Benedicenti, Bolzano)

Communication:

- Master in Clinical Genetics: Congentital Malformations (A. Renieri, Siena)

13.10

Follow-up of previously presented cases:

Speaker L. Garavelli (Reggio Emilia) Case Marden-Walker s.? (19 December 2005) Cospeaker C. Romano (Troina)

13.15

Lunch break

13.45

Discussion about the document on the Clinical Genetics activity: Diagnostic approach methodology to the clinical case

- approval of the document "Collection of informations : Family and personal anamnesis" by G. Scarano, M. Della Monica"

- discussion of the document "Analysis of the phenotype" by C. Romano

14.45

Clinical cases presentation and discussion:

Speaker Della Monica (G. Scarano, Benevento) Case Dubowitz s.? Cospeaker D. Milani (Milano)

Speaker Maria A. Mencarelli (A. Renieri, Siena) Case Microphtalmia Cospeaker E. Tarantino (Pisa)

Speaker Maria F. Bedeschi (F. Lalatta, Milano) Case Marshall Stickler s.? Cospeaker L. Garavelli (Reggio Emilia)

Speaker Maria L. Giovannucci Uzielli (Firenze) Case Opitz "C" s.? Cospeaker C. Pantaleoni (Milano)

Speaker Stefano D'Arrigo (C. Pantaleoni, Milano) Case Alstrom? Cospeaker C. Romano (Troina)

Speaker K. Ludwig (R. Tenconi, Padova) Case De Lange s.? Cospeaker A. Selicorni (Milano)

17.00

Closing session

23 March 2006

Aula Magna

Clinica Mangiagalli - Milano

Coordinator: Prof. Romano Tenconi - University of Padova

PROGRAM

10.45

Welcome statement by Prof Giorgio Pardi, Dept. Director

New and old initiatives (R. Tenconi)

11.15

Seminar:

- Hereditary spastic paraplegias: genes, mechanisms and new therapies (E. Rugarli, Milano)

12.00

Projects in progress:

- XLMR Italian Network. State of advancement of the project (A. Renieri, Siena)

- Glossary of dysmorphic signs. Updating and presentation of the first results (A. Baroncini, Imola)

- Professional experiences in other foreign centres. What can we learn? (F. Mari, Siena - F. Forzano, Genova)

13.00

Follow-up of previously presented cases:

Speaker Della Monica (G. Scarano, Benevento) Case Microdeletion 16q24.2 (10 October 2005) Cospeaker A. Baroncini (Imola)

Speaker S. Marelli (R. Borgatti, Bosisio Parini) Case Angelman s.? (19 December 2005) Cospeaker C. Williams (Florida, USA)

Speaker C. Speciale (A. Renieri, Siena) Case Cohen s.? (20 June 2005)Cospeaker C. Romano (Troina)

13.20

Lunch break

13.45

Discussion about the document on the Clinical Genetics activity

- Diagnostic approach methodology to the clinical case: Discussion about the document "Collection of informations : Family and personal anamnesis" by G. Scarano, M. Della Monica

14.45

Clinical cases presentation and discussion:

Speaker M.F. Bedeschi (F. Lalatta, Milano) Case Costello s.? Cospeaker A. Selicorni (Milano)

Speaker B. Gentilin (F. Lalatta, Milano) Case Vacterl a.? Cospeaker D. Milani (Milano)

Speaker R. Grasso (Bosisio Parini) Case Cohen s. ? Cospeaker A. Renieri (Siena)

Speaker T. Carapella (A. Selicorni, Milano) Case Barraquer-Simons s.? Cospeaker G.B. Ferrero (Torino)

Speaker L. Salviati (R. Tenconi, Padova) Case Kabuki make-up s.? Cospeaker M. Priolo (Reggio Calabria)

Speaker Colombo (D. Clerici, Milano) Case Kabuki make-up s.? Cospeaker M. Priolo (Reggio Calabria)

17.00

Closing session

19 December 2005

Aula Magna

Azienda Ospedaliera Universitaria Anna Meyer - Firenze

Coordinator: prof. Romano Tenconi - University of Padova

PROGRAM

10.45

Italian Clinical Genetics: where are we going (R. Tenconi)

New general regulations of the Specialization Schools (M. Genuardi)

11.15

Seminars:

- Hereditary plastocytopenias (A. Savoia, Trieste) download ppt file

- Isolated and syndromic retinal degenerations (C. Graziano, Bologna) download ppt file

12.45

Present projects

- XLMR Italian Network. Proposal of assent to the Medical Sequencing program NIH (http://www.genome.gov/15014882)

(A. Renieri, Siena)

- Glossary of dysmorphic signs. We started it (A. Baroncini)

13.15

Lunch break

14.30

Proposal:

- Master in Clinical Genetics (M. Priolo, Reggio Calabria)

15.15

Clinical cases presentation and discussion:

-Speaker S. Marelli (R. Borgatti, Bosisio Parini) Case Angelman s.? Cospeaker C. Williams (Florida, USA)

-Speaker E. Andreucci (S. Giglio, Firenze) Case Teebi Hypertelorism s.? Cospeaker A. Battaglia (Pisa)

-Speaker L. Garavelli (Reggio Emilia) Case Marden-Walker s.? Cospeaker C. Romano (Troina)

-Speaker G. Cocchi (Bologna) Case Macrocephaly-MR Cospeaker A. Baroncini (Imola)

16.15

Document about Clinical Genetics activities

- Methodology of diagnostic approach to the clinical case (discussion on the document recently invoid) (G. Scarano, C. Romano, A. Renieri, O. Zuffardi, R. Tenconi)

17.00

Closing session

10 October 2005

Aula Magna

Azienda Ospedaliera Universitaria Anna Meyer - Firenze

Coordinator: prof. Romano Tenconi - University of Padova

PROGRAM

10.45

Speech of Dr. Franca Dagna Bricarelli, SIGU 2005 new President

11:10

Seminar:

- The molecular analysis in patients with Opitz syndrome suggests a more large genetic heterogeneity

(Germana Meroni, Naples) download ppt file

12:00

Updating of previous projects or proposals of new activities

-Definitions and on line catalogue of congenital malformations (A. Baroncini, Imola)

12:05

Follow-up of previously presented cases:

-Speaker G. Stangoni (Assisi) Case Aarskog s.? (20 October 2003)Cospeaker G.B. Ferrero

-Speaker M.F. Bedeschi (Lalatta, Milano) Case ADULT s.? (20 June 2005) Cospeaker G. Scarano

-Speaker C. Speciale (Renieri, Siena) Case Pitt-Hopkins s.? (18 April 2005)Cospeaker E. Tarantino

13.00

Discussion of the presentation about "Approaching methodologies to the clinical case" of September 28th, 09.30 Chia Laguna

download ppt file

13:45

Lunch break

14.10

Clinical Cytogenetics

- 22q distal deletion: Phenotype and preferencial break-points (Clara Bonaglia, Bosisio Parini, Lecco)

14.30

Clinical cases presentation and discussion:

-Speaker M. Della Monica (G. Scarano, Benevento) Case Microdeletion 16q24.2 Cospeaker A. Baroncini

-Speaker L. Garavelli (Reggio Emilia) Case Waardenburg ophthalmo-acromelic Cospeaker R. Tenconi

-Speaker M. Ottaviani (M.L. Giovannucci Uzielli, Firenze) Case Roberts s. ? Cospeaker C. Romano

-Speaker M. Levi (M.L. Giovannucci-Uzielli, Firenze)Case Desbuqois Chondrodystrophy ? Cospeaker G. Scarano

-Speaker G. Garigali (Salerno) OFD type IX ? Case Cospeaker G. B. Ferrero

-Speaker M.A. Mencarelli (Renieri, Siena) Case Rothmund-Thomson ? Cospeaker M. Priolo

17.00

Closing session

20 June 2005

Aula Murri

Policlinico Sant’Orsola-Malpighi

Coordinator: prof. Romano Tenconi - University of Padova

PROGRAM

10:45

Few words about the SIGU meeting 2005: proposals to be tabled, programme of the meeting of Clinical Genetics

(Wednesday September 28, 9.30 - 12.00). download ppt file

11:15

Seminars:

-Rett Syndrome and linked phenotypes: a clinical-genetic review (A. Renieri, Siena)

12:00

-Mosaic variegated aneuploidy syndrome: when a cytogenetist can suggest a non-cytogenetic diagnosis (G. Arrigo, Milano; S. Giglio, Firenze; S. Belli, Torino).

download ppt file

download ppt file

download ppt file

12:20-12:50

15q distal deletion: clinical phenotype and behavioral profile in 6 cases. (A. Ripamonti, MR Arra, G. Politi, Pavia)

download ppt file

download ppt file

download ppt file

12:50

Follow-up of previously presented cases:

13:10

lunch break

13:40

Updating of previous projects, or proposals for new activities

14:00

Clinical cases presentation and discussion:

-Speaker A. Baroncini (Imola) Case Beckwith-Wiedemann s.?Co-speaker L. Mazzanti (Bologna)

-Speaker M. Della Monica (G.Scarano, Benevento) Case Cranio- cerebello-cardiac s.?Co-speaker F. Faravelli (Genova)

-Speaker S. Marelli (R. Borgatti, Bosisio Parini) Case CHARGE a.? Co-speaker G.B. Ferrero (Torino)

-Speaker M. Levi (M.L. Giovannucci, Firenze) Case Goldberg-Shprintzen s.? Co-speaker M. Della Monica (Benevento)

-Speaker L. Mazzanti (Bologna) Case Smith-Fineman-Myers s.? Co-speaker M. Silengo (Torino)

-Speaker M.F. Bedeschi (F. Lalatta, Milano) ADULT s.? Co-speaker G. Scarano (Benevento)

-Speaker S. Bertok (A. Amoroso, Trieste) Okihiro s.? Co-speaker L. Turolla (Treviso)

-Speaker C. Speciale (A. Renieri, Siena) Cohen s.?Co-speaker C. Romano (Troina)

-Speaker L. Garavelli (Reggio Emilia) Nijmegen-like s. ?Co-speaker A. Baroncini (Imola)

17.00

Closing session

18 April 2005

Aula Murri

Policlinico Sant’Orsola-Malpighi

Coordinator: prof. Romano Tenconi - University of Padova

PROGRAM

10:45

Clinical Genetics: Definition and Tasks. download ppt file

11:15

Seminars:

- While analysing a phenotype, do not forget to examine the hair. (M.Silengo, Torino) download ppt file

- Ataxia with oculomotor apraxia and DNA repair defect (L.Chessa, Roma) download ppt file

12:30

Updating of previous projects, or proposals for new activities

-New rare charge-free diseases: proposal for the establishment of a work group (A. Renieri, Siena).

12:45

Follow-up of previously presented cases:

L. Garavelli (Reggio Emilia) Chromosomal abnormality ? (case of December 6, 2004 Co-Speaker: A. Baroncini, Imola)

13:00

lunch break

13:30

Clinical cases presentation and discussion:

-Speaker M. della Monica (G.Scarano, Benevento)Case Neuhauser s.? Co-speaker C. Pantaleoni (Milano)

-Speaker M. Priolo (R. Calabria) Case Malpuech s.? Co-speaker M. Della Monica (Benevento)

-Speaker C. Speciale (A. Renieri, Siena) Case Pitt-Hopkins s.? Co-speaker E. Tarantino (Pisa)

-Speaker S. D'Arrigo (C. Pantaleoni, Milano) Case Bawle s. ?Co-speaker L. Turolla (Treviso)

-Speaker M.L. Giovannucci (Firenze)Case Borjeson-Forssman-Lehmann s.? Co-speaker C. Romano (Troina)

-Speaker R. Grasso (Bosisio Parini) Case Mowat-Wilson s. ?Co-speaker L. Garavelli (Reggio Emilia)

-Speaker E. Lapi (Firenze) Case CFC s. ? Co-speaker C. Romano (Troina)

-Speaker M.F. Bedeschi (F. Lalatta, Milano) Case Smith Magenis s. ? Co-speaker R. Tenconi (Padova)

-Speaker C. Marzocchi (R. Tenconi, Padova) Case Chromosomal instability s. ? Co-speaker L. Chessa (Roma)

-Speaker F. Stanzial (Bolzano) Case 12q13.11 deletion Co-speaker S. Giglio (Milano)

17.00

Closing session

6 December 2004

Aula Murri

Policlinico Sant’Orsola-Malpighi

Coordinator: prof. Romano Tenconi - University of Padova

PROGRAM

10:45

Welcome and Introduction

11:00

Seminars:

- PTEN one gene for many syndromes (G. Guanti, Bari). download

- While analysing a phenotype, do not forget to examine the hair. (M.Silengo, Torino)

12:15

Follow-up of previously presented cases:

M. Della Monica (Benevento) Kabuki make-up s.? (case of June 21, 2004)

12:30

Updating of previous projects, or proposals for new activities

13:00

lunch break

13:30

Clinical cases presentation and discussion:

-Speaker S. Marelli (R. Borgatti, Bosisio Parini) Case Cockaine s.? Co-speaker A. Selicorni (Milano)

-Speaker L. Garavelli (Reggio Emilia) Case Chromosomal abnormality ? Co-speaker A. Baroncini (Imola)

-Speaker L. Boccone (Cagliari) Case SHORT s.? Co-speaker E.Tarantino (Pisa)

-Speaker S. Bertok (A. Amoroso, Trieste) Case Mowat-Wilson s. ? Co-speaker L. Garavelli (Reggio Emilia)

-Speaker S. Bertok (A. Amoroso, Trieste) Case Mowat-Wilson s. ? Co-speaker M. L. Giovannucci (Firenze)

-Speaker A. Selicorni (Milano) Case Ter Haar s. ? Co-speaker C. Danesino (Pavia)

-Speaker M.A. Mencarelli (A. Renieri, Siena) Case Peters -Plus s.? Co-speaker M. Genuardi (Firenze)

-Speaker M.L. Giovannucci (Firenze) Case Kabuki make-up s. ? Co-speaker G. Cocchi (Bologna)

16:30

Seminar:

"The project on variability of the Human Genome and its applications on medical genetics"

(L.L. Cavalli-Sforza, Stanford USA, moderator Giovanni Romeo).

17.30

Closing session and exchange of wishes for the season's.

27 September 2004

Aula Murri

Policlinico Sant’Orsola-Malpighi

Coordinator: prof. Romano Tenconi - University of Padova

PROGRAM

10:45

Welcome and Introduction

11:35

Seminars:

- Role of the PTPN11 gene in human diseases (Marco Tartaglia, ISS Rome). download

11:35 - 13:15

Clinical cases presentation and discussion:

-Speaker S. Vignola (M. Di Rocco, Genova) CaseRadiohumeral synostosis Co-speaker D. Milani (Milano)

-Speaker D. Greco (C. Romano, Troina) CaseFreeman-Sheldon s.? Co-speaker L. Salviati (Padova)

-Speaker L. Papi (M. Genuardi, Firenze) CaseSitus inversus and cystic and pancreatic dysplasia? Co-speaker G.B. Ferrero (Torino)

-Speaker F. Mari (A. Renieri, Siena) Case Cohen Co-speaker M.F. Bedeschi (Milano)

-Speaker L. Memo (Treviso) Case Kabuki make-up s.? Co-speaker P. Cavalli (Cremona)

13:15

lunch break

13:45 - 15:45

Updating of previous projects, or proposals for new activities

- Array - CGH on patients with mental retardation (O. Zuffardi, Pavia)

-Guidelines for Hypoacosis (Paolo Gasparini, NA and working group).

-Meeting of the Clinical Genetics Group on XLMR in the framework of the SIGU congress in Pisa: Friday October 15,

13.30-14.30 room B (ground floor) (A. Renieri, SI e R. Tenconi, PD).

15:45 - 17:00

Clinical cases presentation and discussion:

-Speaker M. Della Monica (Benevento)Case Coffin-Lowry s.? Co-speaker E. Tarantino (Pisa)

-Speaker M.F. Bedeschi (F. Lalatta, Milano) Case Norman-Roberts s.? Co-speaker M. Dalla Monica (Benevento)

-Speaker L. Garavelli (Reggio Emilia) Case ATRX? Co-speaker A. Baroncini (Imola)

-Speaker R. Grasso (Bosisio Parini) Case MR and epilepsy Co-speaker M. Seri (Bologna)

-Speaker I. Mammi (Dolo) Case VATER Association? CHARGE Association? Co-speaker A Selicorni (Milano)

17.00

Closing session

21 June 2004

Aula Murri

Policlinico Sant’Orsola-Malpighi

Coordinator: prof. Romano Tenconi - University of Padova

PROGRAM

10:45

Welcome and Introduction

11:00

Seminars:

- Diseases with chromosomal instability: Nijmegen syndrome (P. Maraschio, PV). download

- RET and modifiers in Hirschsprung disease(G. Romeo, BO). download

12:45

Follow-up of previously presented cases:

A. Mendicino (Roma) Coffin-Lowry syndrome? (case of March 31, 2003)

D. Giachino (Siena) BPES ? (case of April 5, 2004)

13:00

lunch break

14:00

Clinical cases presentation and discussion:

-Speaker G. Pagani (Sondrio) Case Fine-Lubinski syndrome? Co-speakerC. Pantaleoni (Milano)

-Speaker L. Garavelli ( Reggio Emilia) Case Mowat-Wilson syndrome? Co-speaker R. Tenconi (Padova)

-Speaker E. Belligni (M. Silengo, Torino) Case Plagiocephaly and Syndactyly Co-speaker G. Cocchi (Bologna)

-Speaker S. Belli (Trento) Case Multiple pterygium syndrome with athrogryposis Co-speaker L. Mazzanti (Bologna)

-Speaker S. Giglio (Milano) Case Neonatal Adrenoleukodystrophy? Co-speaker M. Della Monica (Benevento)

-Speaker A. Ripamonti (S. Giglio, Milano) Case Lipodystrophy familial partial, Dunnigan type (FPLD)? Co-speaker

L. Salviati (Padova)

-Speaker M. Della Monica (Benevento) Case Kabuki make-up syndrome? Co-speaker I. Mammi (Dolo, Venezia)

-Speaker S. Boni (Belluno) Case Seckel syndrome? Co-speaker M. Seri (Bologna)

-Speaker L. Mazzanti (Bologna) Case Possible Williams syndrome? (negative FISH ). Co-speaker R. Tenconi (Padova)

17.00

Closing session

5 April 2004

Aula Murri

Policlinico Sant’Orsola-Malpighi

Coordinatore: prof. Romano Tenconi - Università di Padova

PROGRAM

Ore 10:45

Comunicazioni

Ore 11:00

Seminari:

- Genetica clinica in oncologia (M. Genuardi, Firenze). scarica presentazione

- Genetica della Neurofibromatosi tipo 2 (L. Papi, Firenze). scarica presentazione

Ore 12:45

Follow-up di casi presentati precedentemente:

MF Bedeschi (Milano) s. di Cohen (caso del 16/09/2002)

Ore 13.00

Picnic in aula

Ore 13:30

Aggiornamento su Progetti o proposte di nuove attività:

- Progetto XLMR: situazione e prospettive (A. Renieri, Siena)

- Raccolta e presentazione dei casi italiani di riarrangiamenti subtelomerici (C. Romano, Troina)

- Costituzione di un gruppo interdisciplinare per la preparazione di linee guida per l'analisi genetica delle ipoacusie (R. Casalone, Varese)

Ore 14:15

Presentazione e discussione dei casi clinici:

Relatore

-Relatore G. Pagani (Sondrio) Caso s. Fine-Lubinski? Controrelatore C. Pantaleoni (Milano)

-Relatore A. Bonfante (Bassano del Grappa) Caso sinfalangismo pros.? Controrelatore G. Scarano (Benevento)

-Relatore M. Capelli (G. Cocchi, Bologna) Caso s. Sotos? Controrelatore C. Romano (Troina)

-Relatore D. Giachino (A. Renieri, Siena) Caso BPES? Controrelatore F. Faravelli (Genova)

-Relatore F. Benedicenti (C. Castellan, Bolzano) Caso s. Proteus? Controrelatore M.Seri (Bologna)

-Relatore Lulli (P.Ferrari,Modena) Caso s. di Aarskog? Controrelatore M. della Monica (Benevento)

-Relatore R. Grasso (Bosisio Parini) Caso RM Controrelatore G.B. Ferrero (Torino)

-Relatore MF. Bedeschi (F. Lalatta, Milano) Caso s. Cumming? Controrelatore I. Mammi (Dolo, Venezia)

-Relatore S. Belli (Trento) Caso s. Holt-Oram ? Controrelatore G. Cocchi (Bologna)

-Relatore L. Salviati (R.Tenconi,Padova) Caso s. Nance-Horan ? Controrelatore S. Belli (Trento)

-Relatore M. della Monica (G.Scarano, Benevento) Caso Alopecia e RM Controrelatore E. Tarantino (Pisa)

Ore 17.00

Chiusura lavori.

15 December 2003

Aula Didattica Presidenza Medicina e Chirurgia

Policlinico Sant’Orsola-Malpighi

Coordinatore: prof. Romano Tenconi - Università di Padova

PROGRAM

Ore 10:45

Comunicazioni

Ore 11:00