摘要
目的对一对有不良孕产史且双方染色体异常的夫妇进行染色体遗传学分析和产前诊断并提供遗传咨询。方法2016年1月抽取夫妻双方的外周血及2016年4月孕妇的羊水标本进行常规细胞培养和染色体制备,并综合应用染色体核型分析(G显带)、荧光原位杂交;单核苷酸多态性微阵列进行染色体遗传学分析。结果孕妇染色体核型:46,XX,del(X)(p22.2-pter),为Xp部分缺失携带者,其染色体在Xp22.33p22.2区段存在16.57 Mb片段的缺失;丈夫染色体核型:46,XY,inv(9)(p11q13)为染色体9号臂间易位携带者;胎儿染色体核型为:46,XX。结论夫妻可生育正常后代,如再次怀孕仍需行产前诊断。
Objective To conduct the genetic analysis and prenatal diagnosis of a couple with chromosomal abnormalities and provide genetic consultation. Methods The peripheral blood of the couple extracted in January 2016 and amniotic fluid specimen of delivery women in April 2016 were selected for the routine cell culture and chromosome preparation, and the chromosomal genetic analysis was conducted by the chromosomal karyotypes(G banding), fluorescence in situ hybridization and SNP array. Results Chromosomal karyotypes of delivery women, 46,XX,del(X)(p22.2-pter), Xp partial deletion carrier,and the chromosome had the 16.57 Mb segment deletion in the Xp22.33p22.2 section; chromosomal karyotypes of husband,46,XY,inv(9)(p11q13), No.9 pericentric translocation carrier, and the chromosomal karyotypes of fetus; 46,XX. Conclusion The couple can produce the normal offspring, and it is necessary to receive the prenatal diagnosis if the wife was pregnant again.
出处
《中外医疗》
2017年第12期41-43,共3页
China & Foreign Medical Treatment
关键词
染色体核型分析
产前诊断
荧光原位杂交
单核苷酸多态性微阵列
Chromosomal karyotypes analysis
Prenatal diagnosis
Fluorescence in situ hybridization
Single nucleotide polymorphisms
