| Autor: |
Kidszun A; Department of Neonatology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany. andre.kidszun@googlemail.com, Fuchs AJ, Russo A, Bartsch M, Frey-Mahn G, Beyer V, Zechner U, Bartsch O, Mildenberger E |
| Jazyk: |
angličtina |
| Zdroj: |
Gene [Gene] 2012 Oct 15; Vol. 508 (1), pp. 117-20. |
| DOI: |
10.1016/j.gene.2012.07.053 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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