Array-CGH in diagnostics of genomic diseases in children with congenital heart diseases and extracardiac pathology

Each hundredth newborn has a heart defect, and it is the cause of infant mortality in 10% of cases. Genetic changes can become the basis for the occurrence of cardiovascular anomalies. The part of patients with congenital heart defects (CHD) and extracardiac pathology have pathogenic copy number variations. In the present study 15 patients aged 1 month to 4 years, who underwent operative treatment for CHD, were examined using high-resolution DNA microarrays SurePrint G3 Human Genome CGH Microarray Kit, 8х60K. All patients had an extracardiac pathology. Seven out of 15 (46%) children had pathogenic and probably pathogenic copy number variations: 4 patients - microdeletion syndrome 22q11.2, one - microdeletion syndromes 7q11.23, microdeletion 1p36, microduplication at the 20p13. Thus, aCGH has a high diagnostic power in detecting genomic imbalance in children with CHD and extracardiac pathology.

вариации числа копий ДНК, врожденные пороки сердца, микроделеции, микродупликации, ДНК-микрочипы, Copy number variations, congenital heart defects, microdeletion, microduplication, microarray

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