15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

ConclusionWe report on an additional case of 15q26  monosomy, characterized by array-CGH. Molecular cytogenetic analysis allowed us to identify the exact size of the deletion, and four candidate genes for genotype-phenotype correlation. 15q26 monosomy should be considered when growth retardation is associated with hearing anomalies and congenita l heart defect, especially atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).
Source: Italian Journal of Pediatrics - Category: Pediatrics Source Type: research