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


 

Monday 18.12.2006 (4/06)

Istituto Mendel - Roma

Coordinator: Prof. Romano Tenconi - University of Padova

 

PROGRAM

 
10.45

Comments about our group (R. Tenconi, Padova)

11.00

Seminars on genomic rearrangements and CGH-arrays:

- Expected and unexpected data on 420 individuals with mental retardation/congenital anomalies and normal karyotype and 186 individuals with chromosome imbalance identified by traditional techniques (O. Zuffardi, Pavia)

- Old and new syndromes identified by array CGH: the experience of Siena (Alessandra Renieri, Siena)


12.20

Projects in progress:

-
Glossary of dysmorphologic signs (A. Baroncini, Imola)
               
           New clinical signs:
                - blefaron, anchiloblefaron (O. Calabrese, Ferrara)
                - ectropion, entropion (M. Zollino, Roma)
               
13.00

Professional experiences in other foreign centres: Clinical Genetics in Middle East (Anwar Baban, Gaslini, Genova)

13.15

Lunch break


13.50

Comments and suggestions for the new SIGU regulation

14.30

Follow-up of previously presented cases:
 

Speaker

Case

Cospeaker

F. Mari (A. Renieri, Siena)

Mowat-Wilson s.? (June 23, 2003)

M. Priolo




Clinical cases presentation and discussion:
 

Speaker

Case

Cospeaker

     
M. Della Monica (G. Scarano, Benevento) Beals s.? R. Tenconi
F. Natacci (F. Lalatta, Milano) Facio-auricolo-thoracic s.? G. Scarano
C. Magnani  (Parma) Geroderma Osteodysplasticum? M. Zollino
V. Uliana (A. Renieri, Siena) Pallister-Killian s.? L. Garavelli
M.F. Bedeschi (F. Lalatta, Milano) Mitochondrial ataxia? R. Salviati
F. Brancati (B. Dallapiccola, Roma) Coffin-Siris s.? D. Greco

17.00

Closing session