title: Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome.
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.
authors.affiliation: Department of Neonatology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany. andre.kidszun@googlemail.com
authors.forename: André
authors.initials: A
authors.lastname: Kidszun
authors.forename: Anne-Jule
authors.initials: AJ
authors.lastname: Fuchs
authors.forename: Alexandra
authors.initials: A
authors.lastname: Russo
authors.forename: Marius
authors.initials: M
authors.lastname: Bartsch
authors.forename: Gabriele
authors.initials: G
authors.lastname: Frey-Mahn
authors.forename: Vera
authors.initials: V
authors.lastname: Beyer
authors.forename: Ulrich
authors.initials: U
authors.lastname: Zechner
authors.forename: Oliver
authors.initials: O
authors.lastname: Bartsch
authors.forename: Eva
authors.initials: E
authors.lastname: Mildenberger
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000002:abnormalities* / Q000473:pathology*; D015997:Neonatal Screening; D013577:Syndrome; D034941:Upper Extremity / Q000473:pathology*