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


 

Monday 27.03.2006 (1/06)

 Aula Magna

Clinica Mangiagalli - Milano

Coordinator: Prof. Romano Tenconi - University of Padova

 

PROGRAM

10.45

Welcome statement by Prof Giorgio Pardi, Dept. Director
New and old initiatives (R. Tenconi)

11.15

Seminar:

- Hereditary spastic paraplegias: genes, mechanisms and new therapies (E. Rugarli, Milano)

12.00

Projects in progress:

- XLMR Italian Network. State of advancement of the project (A. Renieri, Siena)

- Glossary of dysmorphic signs. Updating and presentation of the first results (A. Baroncini, Imola)

- Professional experiences in other foreign centres. What can we learn? (F. Mari, Siena - F. Forzano, Genova)

13.00

 Follow-up of previously presented cases:

 

Speaker

Case

Cospeaker
Della Monica (G. Scarano, Benevento) Microdeletion 16q24.2 (10 October 2005) A. Baroncini (Imola)
S. Marelli (R. Borgatti, Bosisio Parini) Angelman s.? (19 December 2005) C. Williams (Florida, USA)
C. Speciale (A. Renieri, Siena) Cohen s.? (20 June 2005) C. Romano (Troina)





13.20

Lunch break

13.45

Discussion about the document on the Clinical Genetics activity

- Diagnostic approach methodology to the clinical case: Discussion about the document "Collection of informations : Family and personal anamnesis" by G. Scarano, M. Della Monica

14.45

 Clinical cases presentation and discussion:
 
Speaker Case Cospeaker
M.F. Bedeschi (F. Lalatta, Milano) Costello s.? A. Selicorni (Milano)
B. Gentilin (F. Lalatta, Milano) Vacterl a.? D. Milani (Milano)
R. Grasso (Bosisio Parini) Cohen s. ? A. Renieri (Siena)
T. Carapella (A. Selicorni, Milano) Barraquer-Simons s.? G.B. Ferrero (Torino)
L. Salviati (R. Tenconi, Padova) Kabuki make-up s.? M. Priolo (Reggio Calabria)
Colombo (D. Clerici, Milano) Kabuki make-up s.? M. Priolo (Reggio Calabria)
 
17.00

Closing session