15号环状染色体缺失并重复的产前诊断  

Prenatal diagnosis of circular chromosome 15 with deletion and duplication

作　　者：宋筱[1] 汪雪雁[1] 席娜[1] 魏萍[1] SONG Xiao;WANG Xueyan;XI Na;WEI Ping(Department of Medical Genetics and Prenatal Diagnosis,Sichuan Provincial Hospital for Women and Children,Chengdu,Sichuan 610000,China)

机构地区：[1]四川省妇幼保健院医学遗传与产前诊断科,四川成都610000

出　　处：《中国优生与遗传杂志》2022年第2期280-283,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的对1例宫内生长发育迟缓伴左侧足内翻的胎儿进行产前诊断,寻找病因。方法胎儿系统彩超、羊水穿刺常规染色体G显带核型分析和染色体微阵列(CMA)分析。结果核型分析结果显示胎儿为15号环状染色体(r15),CMA结果显示胎儿染体15q26.1q26.2约5.31Mb的重复,15q26.2q26.3约5.26Mb的缺失,父母染色体核型和CMA均未见异常。结论综合超声检查、核型分析及CMA检测结果,结合既往r15病例,分析推测胎儿出生后可能有智力低下、发育迟缓、生长激素缺乏等临床表现。孕妇及家属经遗传咨询后优生选择终止妊娠。Objective To search for the etiology of a fetus with intrauterine growth retardation accompanied by left foot pronation, prenatal diagnosis was used. Methods Color doppler ultrasound, chromosome G banding karyotype analysis and chromosome microarray analysis(CMA) analysis were performed in fetal system. Results Karyotype analysis results showed that the fetus was circular chromosome 15(r15). CMA results showed 5.31 Mb repeat of fetal stain 15 q26.1 q26.2, and 5.26 Mb deletion of 15 q26.2 q26.3. However, the karyotype and CMA results of parents were normal. Conclusion Comprehensive analysis of ultrasound, karyotype, CMA results, and combined with previous r15 cases, it can be inferred that fetus after birth may have low intelligence retardation, growth hormone, lack of clinical manifestations, and so on. Pregnant women and their families choose to terminate pregnancy after genetic counseling eugenics.

关 键 词：环状染色体 染色体微阵列 核型 

分 类 号：R714.5[医药卫生—妇产科学]