Xp11.22等臂双着丝粒型Turner综合征2例的产前诊断及遗传学分析  

Prenatal diagnosis and genetic analysis of two cases of Turner syndrome due to isodicentric Xp11.22

作　　者：王凌晞 康涵 胡誉 吴泳 Wang Lingxi;Kang Han;Hu Yu;Wu Yong(Prenatal Diagnosis Center,Chengdu Women′s and Children′s Central Hospital,School of Medicine,University of Electronic Science and Technology of China,Chengdu,Sichuan 610073,China)

机构地区：[1]电子科技大学医学院附属妇女儿童医院·成都市妇女儿童中心医院产前诊断中心,成都610073

出　　处：《中华医学遗传学杂志》2023年第3期368-373,共6页Chinese Journal of Medical Genetics

摘　　要：目的探讨Turner综合征(TS)中Xp11.22等臂双着丝粒结构异常的遗传学特征。方法选取分别于2020年10月与2020年6月就诊于成都市妇女儿童中心医院的2例孕妇及其疑似性染色体异常或超声结果提示异常的胎儿为研究对象。收集2例孕妇的羊水样品进行G显带染色体核型分析、染色体微阵列(CMA)及荧光原位杂交(FISH)检测,并进行遗传学诊断。结果胎儿1的染色体核型均为45,X[47]/46,X,psu idic(X)(p11.2)[53],胎儿2染色体核型为46,X,psu idic(X)(p11.2)。CMA结果提示2例胎儿均存在Xp22.33p11.22区域缺失及p11.22q28区域重复。FISH结果提示2例胎儿的着丝粒位于1条等臂X染色体上。结论染色体核型分析、FISH和CMA联合检测诊断出2例Turner综合征胎儿,对染色体复杂结构异常的诊断具有一定辅助作用。高分辨率CMA可以精确定位染色体断裂重排位点,对断裂重排机制研究可提供依据。Objective To explore the genetic characteristics of idic(X)(p11.22)in Turner syndrome(TS).Methods Two fetuses suspected for sex chromosome abnormalities or ultrasound abnormalities were selected from Chengdu Women′s and Children′s Central Hospital in October 2020 and June 2020,and amniotic fluid samples were collected for G′banded chromosomal karyotyping analysis,chromosomal microarray analysis(CMA),and fluorescence in situ hybridization(FISH).Results The two fetuses were respectively found to have a karyotype of 45,X[47]/46,X,psu idic(X)(p11.2)[53]and 46,X,psu idic(X)(p11.2).CMA found that both had deletions in the Xp22.33p11.22 region and duplications in the p11.22q28 region.FISH showed that the centromeres in both fetuses had located on an isochromosome.Conclusion The combination of karyotyping analysis,FISH,and CMA is useful for the delineation of complex structural chromosomal aberrations.High-resolution CMA can accurately identify chromosomal breakpoints,which can provide a clue for elucidating the mechanism of chromosomal breakage and rearrangement.

关 键 词：特纳综合征 染色体核型 染色体断裂 微阵列分析 荧光原位杂交 孕妇 胎儿 

分 类 号：R714.5[医药卫生—妇产科学]