A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

Abstract

We describe a unique family with two children having a delay in psychomotor development. In both children we identified an interstitial duplication dup(2)(q34q33) using multiple, complementary molecular cytogenetic techniques. Comparative genomic hybridisation (CGH) and array-CGH were used to determine the size and the location of the duplicated region, the… (More)

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