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

Monday 21.06.2004 (2/04)

 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
 		 Case Co-speaker
G. Pagani (Sondrio) Fine-Lubinski syndrome? C. Pantaleoni (Milano)
L. Garavelli ( Reggio Emilia) Mowat-Wilson syndrome? R. Tenconi (Padova)
E. Belligni (M. Silengo, Torino) Plagiocephaly and Syndactyly G. Cocchi (Bologna)
S. Belli (Trento) Multiple pterygium syndrome with athrogryposis L. Mazzanti (Bologna)
S. Giglio (Milano) Neonatal Adrenoleukodystrophy? M. Della Monica (Benevento)
A. Ripamonti (S. Giglio, Milano) Lipodystrophy familial partial, Dunnigan type (FPLD)?

L. Salviati (Padova)
M. Della Monica (Benevento)

Kabuki make-up syndrome?

 I. Mammi (Dolo, Venezia)
S. Boni (Belluno) Seckel syndrome? M. Seri (Bologna)
L. Mazzanti (Bologna) Possible Williams syndrome? (negative FISH ). R. Tenconi (Padova)



 

17.00

Closing session