PROGRAM
10.45
-
Communications (R. Tenconi, Padova)
11.00
- Seminars (30 m’+20 m’ discussion)
Two-hit model for
severe developmental delay (Nat. Genet 2010;42;203):
- the fact (C. Romano, Troina)
ppt.file
- understanding variable expressivity in
microdeletion
syndromes (Nat Genet 2010;42:192). "OZ version" (O. Zuffardi, PV)
11.45
- Practical disputes in Clinical Genetic
Array-CGH as first choice diagnostic test for the intellectual deficit?
In Italy: pros and cons
(O.
Zuffardi vs M. Priolo) (15 m’+ 20 m’ discussion)
12.40
-
Educational:
Gestaltic test of malformative syndromes (M. Priolo, RC) 20m’
13:10
- Lunch break
13.40
- "Classroom training" on a complicated/simulated
counselling (moderator: M. Seri, BO)"When prenatal diagnosis by
genetic tests predictive of a late-onset
neurological disorder leads to a diagnosis in the
parent. Experience with a family with his
grandfather suffers from spastic paraplegia. You
what would you have done for us?"
.ppt file
30 m’
14.20
-
Projects: in progress
Glossary of
morphological terms: Long Ears / asymmetrical ears (Magnani,
PR) 10m'
.ppt file
How has been transposed document "Ricontatto"(contacted
again)? (See Approval documents of the site) (Belli,
TN) 10'm
.ppt file
-Projects: new
Attitude of Clinical
Geneticists towards Chromosomal Microarrays (CMA) as
diagnostic tool for mental retardation and
congenital anomalies: a survey on an Italian sample
(Di Maria, GE) 10'm
.ppt file
14:50
- Professional experiences abroad
(10'm)
Institute
of Medical Genetics, University Hospital of Wales,
Cardiff (UK) by Angus Clark (2009) (Uliana, SI-GE)
.ppt file
15:00
-
Clinical cases (8'm presentation- 4'm
counter-report-8'm discussion)
Legend: ?=not assigned
BLUE=postponed
to next meeting
17.00
Closing session
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