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


Monday
06.10.2008 (3/08)

Istituto Mendel
Viale Regina Margherita, 261 - Rome

Coordinator: Prof. Romano Tenconi - University of Padova

 

 


PROGRAM


10.45

Short communications (B. Dallapiccola, Roma; R. Tenconi, Padova)


11.15

Seminars

- In charge of CHARGE: clinical and molecular aspects (A. Selicorni, Milano - C. Rossi, Bologna) ppt file; ppt file

- FOXG1 is responsible for the congenital variant of Rett syndrome (A. Renieri, Siena)
 

Projects in progress

Towards a shared definition of quality standards of infrastructures and activities in Clinical Genetics (E. Di Maria, Genova)


13:15

Lunch

13.45

Educational

Professional experiences in other foreign centres: 3 months at the Zentrum f
ür Kinder- und Jugendmedizin, Universität
Freiburg, Deutschland (A. Superti-Furga) (F. Mari, Siena)



14.15

Follow-up of previously presented cases:
 
Presented by Diagnostic suspicion Discussant
L. Salviati (R. Tenconi, Padova) Kabuki s.? presented on March 27th, 2006 M. Priolo



Presentation and discussion of new cases:
 
Presented by Diagnostic suspicion Discussant
L. Garavelli (Reggio Emilia) Goltz-Gorlin s.? M. Della Monica
M.F. Bedeschi (F. Lalatta, Milano) Bilateral tibial hemimelia C. Romano
C. Marzocchi (R. Tenconi, Padova) De Lange s.? A. Selicorni
B. Gentilin (F. Lalatta, Milano) Nager s.? B. Dallapiccola
M. Zollino (Roma) Donnai-Barrow s.? D. Greco
M.L. Dentici (B. Dallapiccola, Roma) Simpson-Golabi-Behmel s.? M. Zollino


17.00

End of meeting