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PROGRAM
10:45
Few words about the SIGU meeting 2005:
proposals to be tabled, programme of the meeting of Clinical Genetics
(Wednesday September 28, 9.30 - 12.00).
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11:15
Seminars:
-Rett Syndrome and linked phenotypes: a clinical-genetic review (A.
Renieri, Siena)
12:00
-Mosaic variegated aneuploidy syndrome: when a cytogenetist can suggest a
non-cytogenetic diagnosis (G. Arrigo, Milano; S. Giglio, Firenze;
S. Belli, Torino).
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12:20-12:50
15q distal deletion: clinical phenotype and
behavioral profile in 6 cases. (A. Ripamonti, MR Arra, G. Politi,
Pavia)
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download ppt file
download ppt file
12:50
Follow-up
of previously presented cases:
13:10
lunch break
13:40
Updating of previous projects, or
proposals for new activities
14:00
Clinical cases presentation and discussion:
Speaker
|
Case |
Co-speaker |
| A. Baroncini (Imola) |
Beckwith-Wiedemann s.? |
L. Mazzanti (Bologna) |
| M. Della Monica (G.Scarano, Benevento) |
|
F. Faravelli (Genova) |
| S. Marelli (R. Borgatti, Bosisio Parini) |
CHARGE a.? |
G.B. Ferrero (Torino) |
|
M. Levi (M.L. Giovannucci, Firenze) |
Goldberg-Shprintzen s.? |
M. Della Monica
(Benevento) |
| L. Mazzanti (Bologna) |
Smith-Fineman-Myers
s.? |
M. Silengo (Torino) |
| M.F. Bedeschi (F.
Lalatta, Milano) |
ADULT s.? |
G. Scarano (Benevento) |
| S. Bertok (A. Amoroso, Trieste) |
Okihiro s.? |
L. Turolla (Treviso) |
| C. Speciale (A.
Renieri, Siena) |
Cohen s.? |
C. Romano (Troina) |
| L. Garavelli (Reggio
Emilia) |
Nijmegen-like s. ? |
A. Baroncini (Imola) |
17.00
Closing session
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