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


Monday
10.10.2005 (2/05)

 Aula Magna

Azienda Ospedaliera Universitaria Anna Meyer - Firenze

Coordinator: prof. Romano Tenconi - University of Padova

 

PROGRAM

10.45

Speech of Dr. Franca Dagna Bricarelli,  SIGU 2005 new President

11:10

Seminar:

- The molecular analysis in patients with Opitz syndrome suggests a more large genetic heterogeneity
(Germana Meroni, Naples) download ppt file  

12:00

Updating of previous projects  or proposals of new activities

-Definitions and on line catalogue of congenital malformations (A. Baroncini, Imola)

12:05

Follow-up of previously presented cases:

Speaker

Case

Cospeaker

G. Stangoni (Assisi)

Aarskog s.? (20 October 2003)

G.B. Ferrero

M.F. Bedeschi (Lalatta, Milano)

ADULT s.? (20 June 2005)

G. Scarano

C. Speciale (Renieri, Siena)

Pitt-Hopkins s.? (18 April 2005)

E. Tarantino


13.00

Discussion of the presentation about "Approaching methodologies to the clinical case" of September 28th, 09.30 Chia Laguna
download ppt file

13:45

Lunch break

14.10

Clinical Cytogenetics

- 22q distal deletion: Phenotype and preferencial break-points (Clara Bonaglia, Bosisio Parini, Lecco)

14.30

Clinical cases presentation and discussion:
 

Speaker

Case

Cospeaker

M. Della Monica (G. Scarano, Benevento)

Microdeletion 16q24.2 A. Baroncini
L. Garavelli (Reggio Emilia) Waardenburg ophthalmo-acromelic R. Tenconi
M. Ottaviani (M.L. Giovannucci Uzielli, Firenze) Roberts s. ? C. Romano
M. Levi (M.L. Giovannucci-Uzielli, Firenze) Desbuqois Chondrodystrophy ? G. Scarano
G. Garigali (Salerno) OFD type IX ? G. B. Ferrero
M.A. Mencarelli (Renieri, Siena) Rothmund-Thomson ? M. Priolo

17.00

Closing session