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Title of Journal: Endocr

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Abbravation: Endocrine

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Springer US

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1559-0100

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A 47 XXY patient and Xq2131 duplication with fea

Authors: Pornpoj Pramyothin Manop Pithukpakorn Richard F Arakaki
Publish Date: 2010/04/09
Volume: 37, Issue: 3, Pages: 379-382
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Abstract

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 Arraybased comparative genomic hybridization revealed duplication at Xq2131 in addition to his abnormal karyotype This duplication was also found in his mother who appeared normal We raise the possibility that the phenotype in this patient is a combination of both extra X chromosome and Xq21 duplication

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