Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.
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ABSTRACT:
SUBMITTER: Cheng YW
PROVIDER: S-EPMC3960053 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Publications
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.
Cheng Yu-Wei YW Tan Christopher A CA Minor Agata A Arndt Kelly K Wysinger Latrice L Grange Dorothy K DK Kozel Beth A BA Robin Nathaniel H NH Waggoner Darrel D Fitzpatrick Carrie C Das Soma S Del Gaudio Daniela D
Molecular genetics & genomic medicine 20131114 2
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder characterized by growth retardation, intellectual disability, upper limb abnormalities, hirsutism, and characteristic facial features. In this study we explored the occurrence of intragenic NIPBL copy number variations (CNVs) in a cohort of 510 NIPBL sequence-negative patients with suspected CdLS. Copy number analysis was performed by custom exon-targeted oligonucleotide array-comparative genomic hybridization and/or MLPA. ...[more]
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