Department of Neonatology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
Gene. 2012 Oct 15;508(1):117-20. doi: 10.1016/j.gene.2012.07.053.
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.
现报道 1 例 49,XXXXY 综合征新生儿病例。双侧桡尺骨关节增厚促使临床进行识别，X 射线成像显示几乎完全桡尺骨融合。常规核型分析显示核型为 49,XXXXY。在这种情况下，以前报道的新生儿症状，如低出生体重、肌肉张力减退或生殖器畸形，均不存在。微卫星分析显示每个 X 染色体均有两个拷贝，支持这四个 X 染色体是由于母细胞减数分裂 I 中非同源染色体分离，然后在减数分裂 II 中两条 X 染色体均发生非同源染色体分离而产生的。组织了多学科随访，以确保及时识别相关并发症。早期诊断可能对结果有益。
