To the Editor, We read with great interest the recent contribution by Pramyothin et al. 1, in Endocrine. They reported a 20-year-old man diagnosed with 47, XXY during childhood, who presents an appearance similar to that of Prader–Willi syndrome (PWS) with hypogonadism and gynecomastia, developmental delay, and short stature and obesity. Array-based comparative genome hybridization revealed duplication at Xq21.31 in addition to his abnormal karyotype. This duplication was also found in his mother who appeared normal. The authors hypothesized that the phenotype in this patient is a combination of both extra X chromosome and Xq21 duplication. On the other hand, Gabbertt et al. 2 have reported a 4-year-old male with an interstitial tandem duplication of Xq21.1–q21.31, maternally inherited, who presented with clinical features of PWS, and they conclude that duplication of chromosome Xq should be considered in the differential diagnosis of PWS, especially in males.
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