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Clinical Significance of De Novo and Inherited Copy-Number Variation

Abstract:

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%; ...

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Publisher copy:
10.1002/humu.22442

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Journal:
Human Mutation More from this journal
Volume:
34
Issue:
12
Pages:
1679-1687
Publication date:
2013-12-01
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
Language:
English
Keywords:
Pubs id:
pubs:440504
UUID:
uuid:ab3aaf56-4323-4652-8157-1b65da9441a9
Local pid:
pubs:440504
Source identifiers:
440504
Deposit date:
2013-12-11

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