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Article

Prader–Willi syndrome phenocopy due to duplication of Xq21.1–q21.31, with array CGH of the critical region

13 Feb 2008

Abstract excerpt

We report on a 4-year-old male with an interstitial tandem duplication of Xq21.1-q21.31 who presented with clinical features of Prader-Willi syndrome (PWS). The duplication was maternally inherited. Abnormalities of the X chromosome have previously been reported in association with a PWS phenotype, but to date, specific duplications of Xq21.1-q21.31 have not. We refined the chromosomal breakpoints seen on initial...

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Identifiers

PMID: 18279435
DOI: 10.1111/j.1399-0004.2007.00960.x

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