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

Monday 18.04.2005 (1/05)

Aula Murri

Policlinico Sant’Orsola-Malpighi

Coordinator: prof. Romano Tenconi - University of Padova

PROGRAM

10:45

Clinical Genetics: Definition and Tasks. download ppt file

Seminars:

- While analysing a phenotype, do not forget to examine the hair. (M.Silengo, Torino) download ppt file

- Ataxia with oculomotor apraxia and DNA repair defect (L.Chessa, Roma) download ppt file

12:30

Updating of previous projects, or proposals for new activities

-New rare charge-free diseases: proposal for the establishment of a work group (A. Renieri, Siena).

12:45

Follow-up of previously presented cases:

L. Garavelli (Reggio Emilia)

Chromosomal abnormality ?

(case of December 6, 2004
Co-Speaker: A. Baroncini, Imola)

lunch break

13:30

Clinical cases presentation and discussion:

Speaker	Case	Co-speaker
M. della Monica (G.Scarano, Benevento)	Neuhauser s.?	C. Pantaleoni (Milano)
M. Priolo (R. Calabria)	Malpuech s.?	M. Della Monica (Benevento)
C. Speciale (A. Renieri, Siena)	Pitt-Hopkins s.?	E. Tarantino (Pisa)
S. D'Arrigo (C. Pantaleoni, Milano)	Bawle s. ?	L. Turolla (Treviso)
M.L. Giovannucci (Firenze)	Borjeson-Forssman-Lehmann s.?	C. Romano (Troina)
R. Grasso (Bosisio Parini)	Mowat-Wilson s. ?	L. Garavelli (Reggio Emilia)
E. Lapi (Firenze)	CFC s. ?	C. Romano (Troina)
M.F. Bedeschi (F. Lalatta, Milano)	Smith Magenis s. ?	R. Tenconi (Padova)
C. Marzocchi (R. Tenconi, Padova)	Chromosomal instability s. ?	L. Chessa (Roma)
F. Stanzial (Bolzano)	12q13.11 deletion	S. Giglio (Milano)

Closing session