MEETINGS ON CLINICAL GENETICS SIGU

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

Presentation and discussion of new cases:

Presented by

Diagnostic suspicion

Discussant

M. A. Mencarelli (A. Renieri, Siena)

Urorectal septal defect

G. Scarano

M. Della Monica (G. Scarano, Benevento)

Coffin-Siris s.?

G. Andria

D. Greco (C. Romano, Troina)

Microcephaly/blepharophimosis

M. Zollino

D. De Brasi (G. Andria, Napoli)

Weill-Marchesani s.?

C. Romano

17.00

Closing session