作 者: (李静); (李亚梅); (陈雪); (裴建赢); (郑雷);
机构地区: 甘肃省妇幼保健院科研中心,兰州730050
出 处: 《中国优生与遗传杂志》 2017年第8期76-77,共2页
摘 要: 13号环状染色体综合征临床中通常表现为发育迟缓或智力低下等先天异常。本文报道了1位由于嵌合型13号环状染色体造成的智力低下的5岁女童。患儿外周血染色体核型分析为mos 46,XX[35]//45,XX,-13[10]/45,XX,t(13;13)(p13q34)[12]/46,XY,r(13)(p13q34)[22]/46,XX,del(13)(q31-qter)[13]。我们比较本病例与国外报道的r(13)(p13q34)型环状13号染色体综合征临床特征,提示13号环状染色体综合征患者临床特征有很大的变化。 The clinical features of ring chromosome 1 3 include mental/growth retardation and other malformations. Here we report a girl who is 5 years old with developmental delay due to mosaic ring chromosome 1 3. The peripheral blood lymphocytes revealed a karyotype of mos 46,XX[35]//45,XX,-13[10]/45,XX,t(13;13)(p13q34)[12]/46,XY,r(13)(p13q34)[22]/46,XX,del(13)(q31-qter)[13]. We compared the clinical features of our patient with other r(13)(p13q34)Cases,the clinical features of patients with chromosome 13 syndrome is various and different.