Pornpoj PramyothinManop PithukpakornRichard F. ArakakiUniversity of Hawaii at Manoa John A. Burns School of MedicineMahidol University2018-09-242018-09-242010-06-01Endocrine. Vol.37, No.3 (2010), 379-3821355008X2-s2.0-77952098959https://repository.li.mahidol.ac.th/handle/20.500.14594/28702A 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.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1007/s12020-010-9330-8