Article
Clinical significance of de novo and inherited copy-number variation.
Human mutation - 1 Dec 2013
Vulto-van Silfhout Anneke T, Hehir-Kwa Jayne Y, van Bon Bregje W M, Schuurs-Hoeijmakers Janneke H M, Meader Stephen, Hellebrekers Claudia J M, Thoonen Ilse J M, de Brouwer Arjan P M, Brunner Han G, Webber Caleb, Pfundt Rolph, de Leeuw Nicole, de Vries Bert B A
Abstract excerpt
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...
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