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PROGRAM
10.45
- Opening address (R. Tenconi)
11.00
Seminars
- Factors predisposing to chromosome nondisjunction (Enrico Cundari,
Roma)
ppt file
- Surgical genetics: prognosis and specific treatment for congenital
cardiopathies associated with genetic syndromes
(Bruno Marino, Roma)
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Updating
- New genes and new clinical conditions of the RAS-MAPK pathway (international
workshop, 22-23 May 2009, Vienna)
(M. Tartaglia, Roma)
ppt file
12.50
Educational
- Gestaltic test of malformation syndromes (M. Priolo, Reggio Calabria)
13.10
Lunch
13.40
Projects: old & new
- Clinical/genetic follow-up of patients/families (S. Belli, Trento)
- XLMR project (A. Renieri, Siena)
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- Glossary of morphological terms: ocular region (M.F. Bedeschi, Milano)
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Communications
- European acknowledgment of the Medical Genetics specialization: good
news (A. Renieri, Siena)
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Professional experiences in other countries:
- Three months in England (Newcastle upon Tyne, UK) (K. Ludwig, PD)
ppt file
14.20
Dysmorphology pitfalls in adult patients
- Adult patient with diagnostic hypothesis of Charcot-Marie-Tooth
disease associated with other anomalies.
The clinical suspicion leads to diagnosis, otherwise (perhaps) the
diagnosis would have never done (M.F. Bedeschi, Milano)
Presentation and discussion of new cases:
17.00
Closing session
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