Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations.

Abstract excerpt

Single nucleotide polymorphism–based microarrays used in diagnostic laboratories for the detection of copy number alterations also provide data allowing for surveillance of the genome for regions of homozygosity. The finding of one (or more) long contiguous stretch of homozygosity (LCSH) in a constitutional (nonneoplastic) diagnostic setting can lead to the diagnosis of uniparental disomy involving an imprinted...

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