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

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Monday 12-09-2011 (3/11)

Sala conferenze Presidenza Medicina

Via Costantinopoli 104, II piano, Napoli

             Coordinator: Prof. Romano Tenconi - University of Padova

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PROGRAM 


10:45
-Communications (R. Tenconi, PD)
 


11:00
Seminar (30m’-15m’ discussion):

- Genetic Cardiomyopathies (L. Politano, V. Nigro, NA). .ppt#1   .ppt#2
- Hereditary retinopathies: New therapeutic frontiers (A. Auricchio, NA)
 


12:30
Educational (20m '):
What I learned from the Master (F. Bedeschi, MI)
 


12:50
Presentation of candidates for the coordination of the Working Group of Clinical Genetics



13:30
Lunch break



14:00
Classroom exercises on a complex counselling (M. Seri Coordinator, BO) 30 m '

-Prenatal genetic counseling for familial 4q terminal deletion of 10 Mb identified in chorionic villi for umbilical cord cysts. What to do-to tell? (E. Pompili and G. Tortora, BO) .ppt
 


14:30
Papers in press / submitted:
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (letter), in press (doi:10.1038/nature10406) (A. Renieri, SI) .ppt

 

14:045
-Clinical cases

From clinical suspicion to unexpected diagnosis (45'; 10' discussion):
-
Prenatal (F.Lalatta, MI)
-
Neonatal (F. Bedeschi, MI)
-Pediatric (L.Politano, NA)

...moreover... Parental mosaicism in AD disease with complete penetrance (not true what is written on the transmission of Pitt-Hopkins syndrome) (M.Zollino, Roma)
 

 

-New clinical cases:

Presented by Diagnostic suspicion Discussant
Vitiello F.(Napoli) Just a Fragile-X or a new syndrome? Neri (Roma)
Lo Rizzo C.(Siena) Growth deficiency, psychomotor retardation and  brachydactyly Tenconi (Padova)
Della Monica M. (Benevento) Facio-Digito-Genital s.? ?
Marozza A.(Siena) VCF spectrum? ?


17.00
Closing session