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Maria Stella Graziani

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Giuseppe Agosta

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Chiara Riva
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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

BC: Articoli scritti da C. Munno

Duplicazione sul cromosoma 22q11.21 in una paziente con difetto cardiaco congenito
Chromosome 22q11.21 duplication in a patient with congenital heart defect
C. Munno  |  F. Verdesca  |  A. Vitale  |  B. Lombardo  |  L. Pastore  | 
<p>The newly described 22q11.2&nbsp;microduplication syndrome is an association of a broad clinical spectrum and up to now more than 50 unrelated cases&nbsp;have been reported. The clinical presentation of patients is extremely variable and shares features with 22q11.2&nbsp;deletion syndromes (DG/VCFS), including heart defects, urogenital abnormalities, velopharyngeal insufficiency with&nbsp;or without cleft palate; it ranges from multiple defects to mild learning difficulties with some individuals being&nbsp;essentially normal. A high resolution array comparative genomic hybridization (a-CGH) 4x180K was performed on a&nbsp;patient with a congenital heart defect, a pulmonary valve stenosis, in order to identify potential mutations and to&nbsp;characterize the clinical phenotype at molecular level. Using a-CGH analysis, we identified a duplication in 22q11.21&nbsp;region of approximately 2.5 Mbp containing several genes including TBX1. The obtained results demonstrate the&nbsp;relevance of a-CGH as a screening method to detect genomic rearrangements responsible for congenital heart&nbsp;defects.</p>
Biochimica Clinica ; 39(4) e1-e3
Casi clinici - Case report