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

Monday 06.12.2004 (4/04)

 Aula Murri

Policlinico Sant’Orsola-Malpighi

Coordinator: prof. Romano Tenconi - University of Padova

 

 PROGRAM

10:45

Welcome and Introduction

11:00

Seminars:

- PTEN one gene for many syndromes (G. Guanti, Bari).                                                       download                       
- While analysing a phenotype, do not forget to examine the hair. (M.Silengo, Torino)

12:15

Follow-up of previously presented cases:

M. Della Monica (Benevento)

 Kabuki make-up s.? (case of June 21, 2004)
 
 

12:30

Updating of previous projects, or proposals for new activities


 
 13:00

lunch break


13:30

Clinical cases presentation and discussion:

 

Speaker
 		 Case Co-speaker
S. Marelli (R. Borgatti, Bosisio Parini) Cockaine s.? A. Selicorni (Milano)
L. Garavelli (Reggio Emilia) Chromosomal abnormality ? A. Baroncini (Imola)
L. Boccone (Cagliari) SHORT s.? E.Tarantino (Pisa)
S. Bertok (A. Amoroso, Trieste) Mowat-Wilson s. ? L. Garavelli (Reggio Emilia)
S. Bertok (A. Amoroso, Trieste) Mowat-Wilson s. ? M. L. Giovannucci (Firenze)
A. Selicorni (Milano) Ter Haar s. ? C. Danesino (Pavia)
M.A. Mencarelli (A. Renieri, Siena) Peters -Plus s.? M. Genuardi (Firenze)
M.L. Giovannucci (Firenze) Kabuki make-up s. ? G. Cocchi (Bologna)

 

Ore 16:30

Seminar:

"The project on variability of the Human Genome and its applications on medical genetics"
(L.L. Cavalli-Sforza, Stanford USA, moderator Giovanni Romeo).

 

17.30

Closing session and exchange of wishes for the season's