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PROGRAM
10:45
- Communications
(R. Tenconi, Padova)
11:00
Seminars:
- Epigenetics and neurodegenerative diseases (Fabio Coppedè, Pisa)
file.ppt
- From
clinical practice to gene using several diagnostic evaluations including
next-generation sequencing (L. Volpi, Milano and D. Concolino, Catanzaro).
file .ppt
-
Pitt-Hopkins syndrome: an update (M. Zollino, Roma)
file .ppt
12:45
Educational:
Gestaltic test of malformative syndromes (Priolo,
Reggio Calabria)
13:10
Lunch
Break
13:40
Projects: new and
in progress
- How would I organize clinical/genetic follow-up
of patients/families in genetic counselling (S. Belli, Trento)
file .ppt
- Morphologic
Glossary: "Macrotia", "Microtia" and "Low set ears" definition. (F.
Bedeschi, Milano)
file .ppt
Communications:
- ISO certification experience,
adjustment to SIGU reccomendation and reflections about clinical
genetics units (A. Renieri, Siena)
file .ppt
14:30
Clinical cases
Pitfalls in prenatal genetic counselling:
- Cohen syndrome prenatal genetic counselling: directiveness vs
no-directiveness? (F. Mari, Siena and P. Gasparini, Trieste)
Follow-up of previously presented cases:
| Presented by |
Diagnostic suspicion |
Discussant |
| E. Lapi (Firenze) |
CFC
s.?
presented on April 18th, 2005 |
C. Romano (Troina, EN) |
Presentation
and discussion of new cases:
17.00
Closing session |