Italian Microdeletion/microduplication Project
Coordinated by Corrado Romano
Array CGH is a powerful technique that has a diagnostic yield greater than that of karyotype, allowing the diagnosis of very smaller chromosomal abnormalities. Starting from the initial 1Mb resolution, current array CGH platforms allow a resolution of =10Kb. By this technique constitutional rearrangements have been found not only in people with mental retardation/developmental disability (5-24% of diagnostic yield according to different studies, inclusion criteria, and platforms), but also in patients with autistic spectrum disorder, epilepsy, brain cortical dysplasia and other late onset diseases.
Aims:
To establish the frequency in the Italian population of diseases due to microdeletion or microduplication identified by array-CGH analysis and to make genotype-phenotype correlations.
Patients:
Both male and female cases with a constitutional microdeletion or microduplication identified by array-CGH analysis. The rearrangement must either be de novo or segregate with the disease in the family.
Organization:
The network includes
27 clinical centers (Tab
1) and
9 laboratories
(Tab.
2) spread all-over Italy.
In the following web site general information is accessible
for public.
Specific information is accessible only for participants and
it includes:
1)
detailed clinical data
2)
location and preservation of biological samples (DNA, lymphoblastoid
cell line, plasma, urine etc.)
3)
laboratory results.
Methodology:
array-CGH analysis
|
Clinical Center |
Reference person |
Assisi |
G. Stangoni |
Avellino |
G. D’Avanzo |
Bari |
F. Carnevale |
Benevento |
G. Scarano |
Bologna, S. Orsola |
L. Mazzanti |
Bosisio Parini |
R. Borgatti |
Brescia |
E. Marchina |
Catanzaro, O. Pugliese |
P. Strisciuglio |
Cremona |
P. Cavalli |
Ferrara |
S. Bigoni |
Firenze, Mayer |
E. Zammarchi |
Genova Galliera |
F. Faravelli |
Genova Gaslini |
M. Di Rocco |
Genova Gaslini |
M. Lerone |
L'Aquila |
E. D'Alessandro |
Milano Pediatria |
A. Selicorni |
Milano Besta |
C. Pantaleoni |
Milano, Mangiagalli |
F. Bedeschi |
Napoli Cardarelli |
MM. Rinaldi |
Padova |
R. Tenconi |
Pavia |
A. Verri |
Pisa, Stella Maris |
A. Battaglia |
Pisa, Stella Maris |
R. Guerrini |
Reggio Calabria |
M. Priolo |
Reggio Emilia |
L. Garavelli |
Roma Cattolica |
G. Neri |
Roma ASL RM E |
M. Pergola |
Roma Tor Vergata |
C. Galasso |
San Giovanni Rotondo |
L. Zelante |
Siena |
A. Renieri |
Torino, Regina Margherita |
G. Ferrero |
Belluno, USSL 1 |
L. Memo |
Treviso, USSL 9 |
L. Turolla |
Trieste |
U. Hladnik |
Troina, OASI |
C. Romano |
Varese |
R. Casalone |
See
Details... |
|
|
Laboratory |
Reference person |
Lecco, Bosisio Parini |
|
Milano, Auxologico |
|
Pavia |
O. Zuffardi |
Roma, Cattolica |
M. Zollino |
Siena |
A. Renieri |
Troina, OASI |
M. Fichera |
Varese |
R. Casalone |
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