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PROGRAM
12
March
10:00 REGISTRATION
11:00 WELCOME AND INTRODUCTION
Greetings from the President of the Italian Society
of Human Genetics (SIGU)
G. Neri (Roma)
11:10 Inaugural readings
Chairmen: G. Neri (Roma), R. Tenconi (Padova)
-The evolution of the human genome
A. Piazza (Torino)
-Constitutional genetic disease and cancer
A. Bellacosa (Philadelphia)
13:15 LUNCH BREAK
14:30 ROUND TABLE: New microdeletions and
microduplication syndromes
Moderators: C. Romano (Troina), M. Zollino (Rome)
-Microduplication syndromes: the counterpart of
"old" microdeletion syndromes
F. Forzano (Genova)
-New microdeletion/microduplication syndromes
M. Zollino (Roma)
-Genomic disorders and reversal polymorphisms
O. Zuffardi (Pavia)
-Microdeletion syndromes and tumors
M. Genuardi (Firenze)
16:30 COFFEE BREAK
17:00 PRESENTATION AND DISCUSSION OF CASES
Moderators: A. Renieri (Siena), A. Selicorni (Monza)
Highlights:
-Follow-up: The diagnosis of
Nicolaides-Baraitser s. was confirmed by the
presence of a de novo mutation in SMARCA2 gene (Nat
Genet 2012 Feb 26)
link to clinical case
-Exome sequence identified two mutations of the ASPM
gene on chromosome 1: one stop mutatios on one
allele (NM_018136:exon16:c.G3796T; p.E1266X) and one
frameshift deletion on the other allele
(NM_018136:exon18:c.7815_7816del; p.2605_2606del).
The ASPM gene is abnormal spindle-like
Microcephaly-associated; MIM#605481
18:30
-Closing session.
13 March
09:00 ROUNDTABLE: The craniosynostosis
Moderators: S. Giglio (Firenze), G. Scarano
(Benevento)
-History of craniosynostosis: evolution of ideas and
therapies
C. Di Rocco (Roma)
-Clinical phenotypes
G. Zampino (Roma)
-Genetic diagnosis and genetic counseling
S. Giglio (Firenze)
-Taking charge and follow-up
S. Romano (Firenze)
11:00 COFFEE BREAK
11:30 PRESENTATION AND DISCUSSION OF CASES
Moderators: C. Galasso (Roma), F. Gurrieri (Roma)
13:00 LUNCH BREAK
14:00 ROUND TABLE: Klinefelter syndrome
Moderators: L. Mazzanti (Bologna), S. Bernasconi
(Parma)
-Prenatal diagnosis of Klinefelter syndrome
F. Lalatta (Milano)
Prenatal Diagnosis of Klinefelter syndrome:
experience in 41 families
L. Tarani (Roma)
-Infancy and childhood
L. Mazzanti (Bologna)
-Adolescence: clinical and therapeutic aspects
M. Cappa (Roma)
-Adulthood: fertility and sexuality
C. Pelusi (Bologna), A. Franceschelli (Bologna)
16:00 GENERAL DISCUSSION AND PROGRAMMING FUTURE
ACTIVITIES
17:00 Closing session and ECM
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