Fan Mei-Rong, Wang Gui-Jie, Yu Xin-You
Department of Medical Experimental Center, General Hospital of Ningxia Medical University, Yinchuan, Ningxia 750004, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jun;20(6):485-489. doi: 10.7499/j.issn.1008-8830.2018.06.011.
A girl aged 5 months was admitted due to developmental delay. Physical examination showed delayed physical development, unusual facies (microcephalus, hypertelorism, low-set ears, wide nasal bridge, and short philtrum), and an absence of the labium minus at one side. The peripheral blood karyotype was 46,XX,r(13)(p11q33)[82]/45,XX,-13[10]/46,XX,r(13;13)(p11q33;p11q33)[8], and array-based comparative genomic hybridization showed an 87.5 Mb duplication in 13q11q33.2 region and an 8.2 Mb deletion in 13q33.2q34 region. Fluorescence in situ hybridization showed terminal depletion of the long arm of the ring chromosome 13. The girl was diagnosed with ring 13 syndrome. This syndrome has various clinical phenotypes and is closely associated with the amount and site of the loss of genetic material in chromosomal band and different rates of chimerism.
一名5个月大的女孩因发育迟缓入院。体格检查显示身体发育迟缓、面容异常（小头畸形、眼距增宽、低位耳、宽鼻梁和短人中），且一侧小阴唇缺失。外周血核型为46,XX,r(13)(p11q33)[82]/45,XX,-13[10]/46,XX,r(13;13)(p11q33;p11q33)[8]，基于阵列的比较基因组杂交显示13q11q33.2区域有87.5 Mb的重复，13q33.2q34区域有8.2 Mb的缺失。荧光原位杂交显示13号环状染色体长臂末端缺失。该女孩被诊断为13号环状染色体综合征。该综合征有多种临床表型，与染色体带中遗传物质丢失的数量和位点以及不同的嵌合率密切相关。
