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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...
Tab. 2 - Laboratories
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