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Article

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

26 Jun 2015

Abstract excerpt

The use of array-comparative genomic hybridization (array-CGH) in routine clinical work has allowed the identification of many new copy number variations (CNV). The 16p13.11 duplication has been implicated in various congenital anomalies and neurodevelopmental disorders, but it has also been identified in healthy individuals. We report a clinical observation of two brothers from related parents each carrying a...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 26114937
DOI: 10.1002/ajmg.a.37212

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