Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

Abstract

Chromosomal rearrangements involving the (sub)telomeres are an important cause of human genetic diseases: with the development of advanced molecular cytogenetic methods they have been identified as a major cause of mental retardation and/or congenital malformation syndromes. We identified a cryptic unbalanced de novo translocation 10p/13q by subtelomere… (More)

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