Monday 05.06.2006 (2/06)

 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:
 

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

Case

Cospeaker