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Journal of Applied Genetics

, Volume 55, Issue 1, pp 125–144

First Online: 03 December 2013Received: 08 August 2013Revised: 17 October 2013Accepted: 20 October 2013DOI: 10.1007-s13353-013-0181-x

Cite this article as: Bartnik, M., Nowakowska, B., Derwińska, K. et al. J Appl Genetics 2014 55: 125. doi:10.1007-s13353-013-0181-x

Abstract

We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization array CGH in a cohort of 256 patients with developmental delay DD-intellectual disability ID with or without dysmorphic features, additional neurodevelopmental abnormalities, and-or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD-ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.

KeywordsCopy-number variation Microdeletion Microduplication Chromosomal microarray analysis Electronic supplementary materialThe online version of this article doi:10.1007-s13353-013-0181-x contains supplementary material, which is available to authorized users.

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Autor: Magdalena Bartnik - Beata Nowakowska - Katarzyna Derwińska - Barbara Wiśniowiecka-Kowalnik - Marta Kędzior - Joanna Berna

Fuente: https://link.springer.com/







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