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PROGRAM
10:45-11:00 Greetings of the coordinator, M. Zollino
(Roma).
11:00-13:00 Discussion of critical points of the
document (relating to the previous meeting)
"GUIDELINES FOR THE GENETIC DIAGNOSIS OF
INTELLECTUAL DISABILITY" (.pdf)
11:00-11:30
Fragile-X syndrome analysis: clinically-guided
indications or routine testing?
Integration with previous guidelines. M. Della
Monica (Benevento).
11:30-12:00 Microdeletion syndromes/haploinsufficiency:
presentation of short clinical cards and
targeted genetic testing (array-CGH vs
sequencing / gene-specific MLPA). M. Zollino
(Roma).
12:00-12:30 Diagnostic approach to RASopathies.
M. Seri (Bologna).
The
audience is invited to the discussion
13:00-13:30
Presentation of candidatures for the coordination of
the Working Group of Clinical Genetics (years
2015-2017).
13:30-14:00
LUNCH BREAK.
14:00-16:30
Clinical cases (tot. 15).
16:30 Closing
session and considerations.
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