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

Pornpoj Pramyothin; Manop Pithukpakorn; Richard F. Arakaki

doi:10.1007/s12020-010-9330-8

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

Pornpoj Pramyothin
, Manop Pithukpakorn
, Richard F. Arakaki

Department of Medicine

University of Hawaii John A. Burns School of Medicine

Research output: Contribution to journal › Article › peer-review

9 Citations (Scopus)

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.

Original language	English
Pages (from-to)	379-382
Number of pages	4
Journal	Endocrine
Volume	37
Issue number	3
DOIs	https://doi.org/10.1007/s12020-010-9330-8
Publication status	Published - Jun 2010

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

DNA microarrays
Klinefelter syndrome
Prader-Willi-like syndrome
Xq duplication

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10.1007/s12020-010-9330-8

Cite this

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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",

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.",

keywords = "DNA microarrays, Klinefelter syndrome, Prader-Willi-like syndrome, Xq duplication",

author = "Pornpoj Pramyothin and Manop Pithukpakorn and Arakaki, \{Richard F.\}",

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AU - Pramyothin, Pornpoj

AU - Pithukpakorn, Manop

AU - Arakaki, Richard F.

PY - 2010/6

Y1 - 2010/6

N2 - 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.

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KW - DNA microarrays

KW - Klinefelter syndrome

KW - Prader-Willi-like syndrome

KW - Xq duplication

UR - https://www.scopus.com/pages/publications/77952098959

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JF - Endocrine

IS - 3

ER -

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

Abstract

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Keywords

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