MEETINGS ON CLINICAL GENETICS
SIGU (Italian Society of Human Genetics)


 

Friday 30/01/2015

Ospedale Galliera, Genova

Aula Magna, second floor

 

                     Coordinator: Prof. Alessandra Reneri - University of Siena

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PROGRAM 


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)
 

Presented by Diagnostic suspicion Discussant
V. Fergnani (specializzanda) - F. Bedeschi (tutor) STAR SYNDROME PLUS? L. Garavelli
C. Lo Rizzo (specializzanda) - A. Renieri (tutor) SMITH-MAGENIS SYNDROME? F. Bedeschi
L.Garavelli RUBINSTEIN-TAYBI SYNDROME? CORNELIA DE LANGE SYNDROME? R. Tenconi
V. Capra MACROCEPHALY/SUBDURAL HEMMORRHAGE A. Renieri
M. Della Monica COFFIN-SIRIS SYNDROME? BARBER-SAY SYNDROME? C. Romano
F.Guarnaccia (specializzanda) - F. Lalatta (tutor) PITT-HOPKINS SYNDROME? R. Tenconi
C. Di Marco (specializzanda) - M. A. Mencarelli (tutor) RUBINSTEIN-TAYBI SYNDROME? BLEPHAROPHIMOSIS-ID SYNDROMES? 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