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

Monday 27.09.2004 (3/04)

 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
 
Case Co-speaker
S. Vignola (M. Di Rocco, Genova) Radiohumeral synostosis D. Milani (Milano)
D. Greco (C. Romano, Troina) Freeman-Sheldon s.? L. Salviati (Padova)
L. Papi (M. Genuardi, Firenze) Situs inversus and cystic and pancreatic dysplasia? G.B. Ferrero (Torino)
F. Mari (A. Renieri, Siena) Cohen M.F. Bedeschi (Milano)
L. Memo (Treviso) Kabuki make-up s.? 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
 
Case Co-speaker
M. Della Monica (Benevento) Coffin-Lowry s.?

E. Tarantino (Pisa)

M.F. Bedeschi (F. Lalatta, Milano) Norman-Roberts s.? M. Dalla Monica (Benevento)
L. Garavelli (Reggio Emilia)

ATRX?

A. Baroncini (Imola)

R. Grasso (Bosisio Parini)

MR and epilepsy M. Seri (Bologna)
I. Mammi (Dolo)

VATER  Association?
CHARGE Association?

A Selicorni (Milano)



 

17.00

Closing session