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

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dc.contributor.authorPornpoj Pramyothinen_US
dc.contributor.authorManop Pithukpakornen_US
dc.contributor.authorRichard F. Arakakien_US
dc.contributor.otherUniversity of Hawaii at Manoa John A. Burns School of Medicineen_US
dc.contributor.otherMahidol Universityen_US
dc.date.accessioned2018-09-24T08:44:56Z
dc.date.available2018-09-24T08:44:56Z
dc.date.issued2010-06-01en_US
dc.description.abstractA 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.en_US
dc.identifier.citationEndocrine. Vol.37, No.3 (2010), 379-382en_US
dc.identifier.doi10.1007/s12020-010-9330-8en_US
dc.identifier.issn1355008Xen_US
dc.identifier.other2-s2.0-77952098959en_US
dc.identifier.urihttps://repository.li.mahidol.ac.th/handle/20.500.14594/28702
dc.rightsMahidol Universityen_US
dc.rights.holderSCOPUSen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=77952098959&origin=inwarden_US
dc.subjectBiochemistry, Genetics and Molecular Biologyen_US
dc.subjectMedicineen_US
dc.titleA 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: Results of array-based comparative genomic hybridizationen_US
dc.typeArticleen_US
dspace.entity.typePublication
mu.datasource.scopushttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=77952098959&origin=inwarden_US

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