Structural genomic variation in intellectual disability.

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Title:	Structural genomic variation in intellectual disability.
Author(s):	Pfundt, R.; Veltman, J.A.
Publication year:	2012
Source:	Methods in Molecular Biology, vol. 838, (2012), pp. 77-95
ISSN:	1064-3745
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/109611
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Subject:	NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders
Organization:	Dermatology Human Genetics
Journal title:	Methods in Molecular Biology
Volume:	vol. 838
Page start:	p. 77
Page end:	p. 95
Abstract:	The genetic causes of mental retardation are highly heterogeneous and for a large proportion unknown. Mutations as well as large chromosomal abnormalities are known to contribute to mental retardation, and recently more subtle structural genomic variations have been shown to contribute significantly to this common and complex disorder. Genomic microarrays with increasing resolution levels have revealed the presence of rare de novo CNVs in approximately 15% of all mentally retarded patients. Microarray-based CNV screening is rapidly replacing conventional karyotyping in the diagnostic workflow, resulting in an increased diagnostic yield as well as biological insight into this disorder. In this chapter, an overview is given of the detection and interpretation of copy number variations in mental retardation, with a focus on diagnostic applications. In addition, a detailed protocol is provided for the diagnostic interpretation of copy-number variations in mental retardation.