Skeletal abnormalities of the upper limbs — Neonatal diagnosis of 49,XXXXY syndrome |
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Authors: | André Kidszun,Anne-Jule Fuchs,Alexandra Russo,Marius Bartsch,Gabriele Frey-Mahn,Vera Beyer,Ulrich Zechner,Oliver Bartsch,Eva Mildenberger |
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Affiliation: | 1. Department of Neonatology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany;2. Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany |
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Abstract: | 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. |
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Keywords: | bp, base pairs(s) RFLP, restriction-fragment length polymorphism STR, short tandem repeat |
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