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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:
17.00
Closing session
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