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Monday
10.10.2005 (2/05)
Aula
Magna
Azienda Ospedaliera Universitaria Anna Meyer -
Firenze
Coordinator: prof. Romano Tenconi -
University of Padova
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PROGRAM |
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10.45
Speech of Dr. Franca Dagna Bricarelli, SIGU
2005 new President
11:10
Seminar:
- The molecular analysis in patients with Opitz
syndrome suggests a more large genetic heterogeneity
(Germana Meroni, Naples)
download ppt file
12:00
Updating of previous projects or proposals of new activities
-Definitions and on line catalogue of congenital malformations (A.
Baroncini, Imola)
12:05
Follow-up
of previously presented cases: |
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Speaker |
Case |
Cospeaker |
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G. Stangoni (Assisi) |
Aarskog s.?
(20 October 2003) |
G.B. Ferrero |
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M.F. Bedeschi (Lalatta, Milano) |
ADULT s.? (20
June 2005) |
G. Scarano |
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C. Speciale (Renieri, Siena) |
Pitt-Hopkins s.? (18 April 2005) |
E. Tarantino |
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13.00
Discussion of the presentation about "Approaching methodologies to the
clinical case" of September 28th, 09.30 Chia Laguna
download ppt file
13:45
Lunch break
14.10
Clinical Cytogenetics
- 22q distal deletion:
Phenotype and preferencial break-points (Clara Bonaglia, Bosisio Parini,
Lecco)
14.30
Clinical cases presentation and discussion:
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Speaker |
Case |
Cospeaker |
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M. Della Monica (G. Scarano, Benevento) |
Microdeletion 16q24.2 |
A. Baroncini |
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L. Garavelli (Reggio Emilia) |
Waardenburg ophthalmo-acromelic |
R. Tenconi |
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M. Ottaviani (M.L. Giovannucci Uzielli, Firenze) |
Roberts s. ? |
C. Romano |
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M. Levi (M.L. Giovannucci-Uzielli, Firenze) |
Desbuqois Chondrodystrophy ?
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G. Scarano |
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G. Garigali (Salerno) |
OFD type IX ?
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G. B. Ferrero |
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M.A. Mencarelli (Renieri, Siena) |
Rothmund-Thomson ? |
M. Priolo |
17.00
Closing session |