Article
The genetics of microdeletion and microduplication syndromes: an update.
Annual review of genomics and human genetics - 1 Jan 2014
Watson Corey T, Marques-Bonet Tomas, Sharp Andrew J, Mefford Heather C
Abstract excerpt
Chromosomal abnormalities, including microdeletions and microduplications, have long been associated with abnormal developmental outcomes. Early discoveries relied on a common clinical presentation and the ability to detect chromosomal abnormalities by standard karyotype analysis or specific assays such as fluorescence in situ hybridization. Over the past decade, the development of novel genomic technologies has...
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