Clinical Significance of De Novo and Inherited Copy-Number Variation

Journal article

Copy-number variations (CNVs) are a common cause of intellectual disability and/or multiple congenital anomalies (ID/MCA). However, the clinical interpretation of CNVs remains challenging, especially for inherited CNVs. Well-phenotyped patients (5,531) with ID/MCA were screened for rare CNVs using a 250K single-nucleotide polymorphism array platform in order to improve the understanding of the contribution of CNVs to a patients phenotype. We detected 1,663 rare CNVs in 1,388 patients (25.1%; ...

Expand abstract

Authors: Vulto-van Silfhout, A; Hehir-Kwa, J; van Bon, B; Schuurs-Hoeijmakers, J; Meader, S

• Journal: Human Mutation
• Volume: 34
• Issue: 12
• Pages: 1679-1687
• Publication date: 2013-12-01
• DOI: 10.1002/humu.22442
• EISSN: 1098-1004
• ISSN: 1059-7794
• Language: English
• Keywords: Copy number variation; Genotype-phenotype; CNV; Human phenotype ontology; SNP