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Article

A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization.

Endocrine - 1 Jun 2010

Pramyothin Pornpoj, Pithukpakorn Manop, Arakaki Richard F

Abstract excerpt

A man diagnosed with 47, XXY during childhood presents an appearance similar to that of Prader-Willi syndrome with hypogonadism and gynecomastia, developmental delay, and short stature and obesity. Array-based comparative genomic hybridization revealed duplication at Xq21.31 in addition to his abnormal karyotype. This duplication was also found in his mother who appeared normal. We raise the possibility that the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20960156
DOI: 10.1007/s12020-010-9330-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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