English 
Italian Duplicazione sul cromosoma 22q11.21 in una paziente con difetto cardiaco congenito
AUTHORS
1CEINGE-Biotecnologie Avanzate scarl, Napoli
2Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università Federico II, Napoli
3Dipartimento di Scienze Motorie e del Benessere, Università “Parthenope”, Napoli
ABSTRACT
Chromosome 22q11.21 duplication in a patient with congenital heart defect
The newly described 22q11.2 microduplication syndrome is an association of a broad clinical spectrum and up to now more than 50 unrelated cases have been reported. The clinical presentation of patients is extremely variable and shares features with 22q11.2 deletion syndromes (DG/VCFS), including heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate; it ranges from multiple defects to mild learning difficulties with some individuals being essentially normal. A high resolution array comparative genomic hybridization (a-CGH) 4x180K was performed on a patient with a congenital heart defect, a pulmonary valve stenosis, in order to identify potential mutations and to characterize the clinical phenotype at molecular level. Using a-CGH analysis, we identified a duplication in 22q11.21 region of approximately 2.5 Mbp containing several genes including TBX1. The obtained results demonstrate the relevance of a-CGH as a screening method to detect genomic rearrangements responsible for congenital heart defects.