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

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Friday, 20-04-2012

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

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PROGRAM 

10:45 Introduction and Greetings
Coordinator
M. Zollino (Roma)

 

22q11 Deletion Syndrome:

-11:00 The phenotype in childhood and in adolescence-adulthood C. Digilio (Roma)
-11:40 Clinical cases on the subject (personal case studies, atypical presentations)

 

Smith-Magenis Syndrome:

-12:00 The phenotype in childhood and in adolescence-adulthood G. Zampino (Rome)
-12:30 The neurobehavioral phenotype S. D'Arrigo (Milano)
-13:00 Clinical cases on the subject (personal case studies, atypical presentations)
 

13:30 to 14:00 Lunch Break

 

14:00-14:30 Call for patients: Schinzel-Giedion syndrome .ppt

 

Angelman Syndrome:
-14:30 The underlying genetic defect F. Gurrieri (Roma)
-14:45 The phenotype in childhood and in adolescence-adulthood D. Greco (Troina)
-15:15 Epilepsy  I.Contaldo (Roma)
-15:30 Clinical cases on the subject (personal case studies, atypical presentations)



16-16.45 Gestaltic Test  M. Priolo (Cosenza), M. Zollino (Roma)
 

 17.00
-ECM and Closing session.