Genética hereditaria: investigación actual

Abstracto

Two de novo Overlapping Interstitial Duplications at 10q22 Associated with Speech Impairments, Behaviour Problems, Genital Anomalies, Developmental Delay and Intellectual Disability

Weipeng Wang, Jieping Song, Hui Li and Haiming Yuan

Copy number variants (CNVs) involving the 10q22 chromosomal region are rarely reported. At present, only eight patients with deletions at this locus have been reported. The reciprocal duplications are rarer and have never been described. Here, we report two unrelated patients with de novo overlapping duplications at 10q22 detected by high-resolution chromosomal microarray analysis (CMA). CMA revealed two duplications: arr 10q22.1q22.3(72331092-78710233) × 3 dn and arr 10q22.1q22.3(70742930-80565963) × 3 dn. Speech impairments, behavior problems, genital anomalies, dysmorphic features, developmental delay and intellectual disability were observed in both patients. The shared genomic region and the similar clinical features suggest a novel contiguous gene duplication syndrome at 10q22. Based on all pathogenic CNVs delineated and candidate genes identified in this interval, the critical region for the novel genomic duplication syndrome is located on 10q22.2.