Skeletal abnormalities of the upper limbs ¡ª Neonatal diagnosis of 49,XXXXY syndrome

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• 作者：Andr¨¦ Kidszun ; Anne-Jule Fuchs ; Alex ; ra Russo ; Marius Bartsch ; Gabriele Frey-Mahn ; Vera Beyer ; Ulrich Zechner ; Oliver Bartsch ; Eva Mildenberger
• 关键词：bp ; base pairs(s) ; RFLP ; restriction-fragment length polymorphism ; STR ; short tandem repeat
• 刊名：Gene
• 出版年：2012
• 出版时间：15 October, 2012
• 年：2012
• 卷：508
• 期：1
• 页码：117-120
• 全文大小：454 K

文摘

A case of neonatal diagnosis of 49,XXXXY syndrome is presented. Clinical identification was prompted by a bilateral thickening of the radioulnar joints and X-ray imaging disclosing almost complete radioulnar synostosis. Conventional karyotyping was initiated and revealed a karyotype of 49,XXXXY. Previously reported neonatal symptoms such as low birth weight, muscular hypotonia, or genital malformations were absent in this case. Microsatellite analysis showed two different X chromosomes each present in two copies, supporting that the four X chromosomes had arisen from a nondisjunction in maternal meiosis I followed by a second nondisjunction involving both X chromosomes in meiosis II. Multidisciplinary follow-up was organised to ensure timely recognition of associated complications. Early awareness of the diagnosis may offer a potential benefit regarding outcome.