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

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Monday 18 April 2011 (1/11)
Aula Magna - 2 piano - Padiglione C EO Ospedali Galliera, Genova
Coordinator: Prof. Romano Tenconi - University of Padova

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Commenti all'Incontro Prof. Tenconi

~PROGRAM


10:45
Welcome (F. Dagna, GE)
 
Communications (R. Tenconi, PD)



11:00
Seminars (30 m’ -15 m’ discussion):

- Cerebellar disease in children: diagnostic flow-chart (S. D’Arrigo & C. Pantaleoni, MI) file.ppt
- Genomics and bioinformatics analysis of DNA from patients with schizophrenia (Sergio Barlati, BS) file.ppt



12:30
Educational ( 20 m’)

- Gestaltic test on malformative syndromes (M. Priolo, RC)



13:00
Lunch break



13:30
The malformation syndromes in adulthood (20 m’)

- Natural history of 45 young adult patients with Williams syndrome: experience of more than 15 years (Am J Med Genet 2011;155A:353 and more)(MF. Bedeschi e A. Selicorni, MI)  file .ppt



13:50
WHAT WOULD YOU DO?
-Classroom exercises on a complex consulting / simulated (moderatore M. Seri, BO)(30 m’): Myotonic confusion (S. Miccoli & C. Graziano, BO) file.ppt

-In genetic counseling should always check the diagnosis and look for good consultants (R. Tenconi, PD) file .ppt



14:20
Current projects:

- Update on the document of Clinical Genetics Workgroup: CMA as a diagnostic test of choice for the intellectual disabilities / behavioral disorders / malformations (R. Tenconi, PD)(10m’) file .ppt

Papers in press/submitted

14:30
Update of clinical cases already presented, and new presentations (8'm presentation- 4'm counter-report-8'm discussion)
 

Presented by Diagnostic suspicion Discussant
Della Monica M. (BN) Oberklaid-Danks/Bohring-Opitz s.? Giovannucci (FI)
Gai G. (TO) Noonan-like s.? Faravelli (GE)
Scuvera G. (MI) Familiar Treacher Collins syndrome: example of a wide phenotypic variability  
Mandrile G. (TO) Aspecific Intellectual Deficit Romano (Troina)
Uliana V. (GE) Simpson-Golabi-Behemel s.? Zollino (RM)
Cocchella A. (GE) Connective tissue disorder? Grosso (TO)

 

17.00
-Closing session