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

 

Friday, 19-09-2014
Istituto C.S.S. Mendel
Viale Regina Margherita, 261


Coordinator: Prof. Marcella Zollino- University "Sacro Cuore"- Roma
 

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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.