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

Issued Date

2010-06-01

Resource Type

Article

ISSN

1355008X

DOI

10.1007/s12020-010-9330-8

Other identifier(s)

2-s2.0-77952098959

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Endocrine. Vol.37, No.3 (2010), 379-382

Suggested Citation

Pornpoj Pramyothin, Manop Pithukpakorn, Richard F. Arakaki A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: Results of array-based comparative genomic hybridization. Endocrine. Vol.37, No.3 (2010), 379-382. doi:10.1007/s12020-010-9330-8 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/28702

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Title

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

Author(s)

Pornpoj Pramyothin
 Manop Pithukpakorn
 Richard F. Arakaki

Other Contributor(s)

University of Hawaii at Manoa John A. Burns School of Medicine
 Mahidol University

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. 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 phenotype in this patient is a combination of both extra X chromosome and Xq21 duplication. © 2010 Springer Science+Business Media, LLC.

Keyword(s)

Biochemistry, Genetics and Molecular Biology
 Medicine

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/28702

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Scopus 2006-2010