一名患有8号染色体臂间倒位的畸形儿童。
A dysmorphic child with a pericentric inversion of chromosome 8.
作者信息
Ananthapur Venkateshwari, Avvari Srilekha, Madireddi Sujatha, Nallari Pratibha, Akka Jyothy
机构信息
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, India.
出版信息
Case Rep Pediatr. 2012;2012:813963. doi: 10.1155/2012/813963. Epub 2012 Feb 8.
An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype.
一名8岁男孩因容貌异常被转诊至我院，这些异常特征包括轻度狼疮、小颌畸形、发际线低、发育不全、左侧面部半侧萎缩、耳朵大小异常、小鱼际肌发育不全、下巴发育不全和舌系带过短。磁共振成像（MRI）扫描结果正常，脑电图提示全身性癫痫障碍。对先证者的细胞遗传学评估显示8号染色体臂间倒位，核型为46, XY, inv 8 (p11.2; q21.2)。
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