摘要
目的报道一例13-三体综合征胎儿的临床病例,探讨细胞遗传学检查在13-三体综合征诊断中的应用价值。方法通过对孕妇行羊膜腔穿刺获取胎儿细胞进行培养并行染色体核型分析来确定胎儿的染色体核型。结果一例中孕期血清学产前筛查示唐氏综合征高风险及彩色超声检查示唇腭裂可疑的胎儿,羊水染色体核型分析结果为47,XY,+13。结论细胞遗传学染色体检查核型分析技术可确诊13-三体综合征。
Objective:Report a clinical case of a fetus with trisomy 13 syndrome and explore the application value of cytogenetic examination in the diagnosis of trisomy 13 syndrome.Methods:The chromosome karyotype of the fetus was determined by culture and karyotype analysis of fetal cells obtained by amniotic cavity puncture in pregnant women.Results:A case of fetus with high risk of Down′s syndrome and suspicious cleft lip and palate with serological prenatal screening during mid-pregnancy showed a karyotype analysis of amniotic fluid of 47,XY,+13.Conclusion:Cytogenetic chromosome examination and karyotype analysis can diagnose trisomy 13 syndrome.
作者
张林琳
施绍瑞
代云才
罗立
郭雅梅
刘佳培
ZHANG Lin-lin;SHI Shao-rui;DAI Yun-cai;LUO Li;GUO Ya-mei;LIU Jia-pei(Genetics Laboratory of The Second People′s Hospital of Yibin,Sichuan Yibin 644000,China)
出处
《中国优生与遗传杂志》
2020年第7期814-816,共3页
Chinese Journal of Birth Health & Heredity
