摘要
1例α地贫基因携带者,因其第一胎胎儿畸形,经产前诊断发现第一胎胎儿地贫产前诊断基因型为--SEA/--SEA,染色体核型为:46,X,del(Y)(q11.23),并于孕35w引产,为了解其Y染色体异常的影响,对患者进行了患者全基因组测序(检测100K以上染色体微缺失微重复区域),结果为46,XY,dup(4)(q31.21),del(6)(p21.33),Y染色体区域未见微缺失。患者妻子于第二年顺利妊娠第二胎,新生儿为女性正常地贫携带者。
A case of α-thalassemia gene carrier,his first fetus was found with fetal malformation,the fetal genotype of thalassemia was--SEA/--SEA,the karyotype of fetus was 46,X,del（Y）（q11.23）,and the pregnancy of his wife was terminated at 35 weeks. In order to study the influences of the Y chromosome abnormalities,the patients was undergoed whole genome sequencing（detection≥100K chromosome microdeletions or microrepeats）,the result was 46,XY,dup（4）（q31.21）,del（6）（p21.33）,but no Y chromosome microdeletion was detected. His wife has successful pregnancy at the second year and the new-born was a normal female α-thalassemia carrier.
出处
《中国优生与遗传杂志》
2015年第7期16-17,F0002,共3页
Chinese Journal of Birth Health & Heredity
基金
绍兴市一般科技项目-公益性技术应用研究计划(2014B70056)
关键词
α地贫
Y染色体
基因
α-thalassemia
Y chromosome
Gene
