一名具有嵌合型8三体综合征临床和皮纹特征的男性，其染色体核型为46,XY/48,XXY, +8 。
46,XY/48,XXY, +8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndrome.
作者信息
Casey P A, Clark C E, Cowell H R
出版信息
Clin Genet. 1981 Jul;20(1):60-3. doi: 10.1111/j.1399-0004.1981.tb01808.x.
Abstract
A 15-year-old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of multiple congenital malformations. The patient was found to have a mosaic 46,XY/48,XXY,+8 chromosome complement with the characteristic clinical and dermatoglyphic features of mosaic trisomy 8 syndrome.
摘要
一名15岁男性因先天性椎体异常继发脊柱侧弯前来就诊。由于存在多种先天性畸形，遂进行了细胞遗传学分析。结果发现该患者具有46,XY/48,XXY,+8染色体嵌合体，伴有8号染色体三体综合征嵌合体的典型临床和皮纹特征。
Zotero 插件