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


Monday
21.09.2009 (3/09)

Pisa
aula Clinica Pediatrica,
AOU Pisana, Ospedale Santa Chiara - Pisa
 

Coordinator: Prof. Romano Tenconi - University of Padova

 

 


 PROGRAM


10.45

 
- Welcome by E. Tarantino & P. Simi (Pisa)
 
 

 - Communications (R. Tenconi, Padova)

 

11:00

Seminars:

- Micro-RNA in human diseases (S. Landi, Pisa) ppt file

- Genetics of SCA in Italy (A. Brusco, Torino) ppt file
 

Bringing up to date:  

- De Lange syndrome seems to be due to the expression levels of several genes (A. Musio, Pisa) ppt file


13.10
Break


13:30

- Ongoing projects:

- Glossary of phenotypic anomalies (M. Della Monica, Benevento)


Papers in press/submitted (Italian collaborative studies)

- a new gene (SHOC2) of the neuro-cardio-facial-cutaneous family (Nature Genetics, online 16 August 2009),

- a new previously undescribed syndrome dup(X)(p11.22-p11.23) (AJHG, online 27 August 2009) ppt file


14:15

Dysmorphology pitfalls in adult patients

- Suspicious of del(9q): no diagnosis would be made (even with a-CGH) without the parent's examination and a long clinical follow-up  (F. Mari, Siena) ppt file

- Diagnostic odyssey ends with the diagnosis made by the patient’s sister (E. Tarantino, Pisa). And more… doc file


Follow-up of previously presented cases:
 
Presented by Diagnostic suspicion Discussant
M. Della Monica (G. Scarano, Benevento) Dubowitz s.? presented on 5 June 2006 D. Milani (Milano)

 
 Presentation and discussion of new cases:
 
Presented by Diagnostic suspicion Discussant
A. Bonfante Binder s.? Connective tissue disorder? M. Della Monica
E. Alfei (C. Pantaleoni, Milano) Pitt-Hopkins like? M. Zollino
G. Marangi (M. Zollino, Roma) FG s.? P. Guanciali Franchi
S. D'Arrigo (C. Pantaleoni, Milano) Disorder of DNA repair? L. Chessa
M. L. Giovannucci-Uzielli (Firenze) Simpson-Golabi-Behmel s.? C. Romano
D. Greco (C. Romano, Troina) Treacher-Collins s.? E. Tarantino


17.00

Closing session