Microdeletion and microduplication syndromes
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Updated: Nov 2, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
1Molecular Genetics Unit, Institute of Child Health, London, U.K.
Abstract:
Microdeletions or microduplications have been shown to be associated with a number of important clinical conditions. In most cases no single gene within the segment has been identified as giving rise to the phenotype. The chromosomal rearrangements are generally too small to be identified reliably by standard cytogenetics, but a combination of FISH and molecular methods may be used. This review discusses the application of current knowledge to the prenatal diagnosis of the most common of these conditions i.e. Prader-Willi syndrome, Angelman syndrome, hereditary motor and sensory neuropathy type 1 and 22q11 deletion syndromes.
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