1例潜在Angleman综合征风险妊娠的产前遗传学诊断  

Prenatal Genetic Diagnosis of a Pregnancy with Risk of Angleman syndrome

作　　者：张静[1] 崔英霞[1] 范晓博[1] 陈颖皓[1] 周洋[1] 夏欣一[1] 李晓军[1] 

机构地区：[1]南京军区南京总医院解放军临床检验医学研究所临床中心实验科,南京210002

出　　处：《现代检验医学杂志》2011年第4期25-27,共3页Journal of Modern Laboratory Medicine

基　　金：基金项目：国家自然科学基金（编号：30901652）.

摘　　要：目的报告1例潜在Angleman综合征风险妊娠的产前遗传学诊断。孕扫曾生育过15q11-13缺失的Angleman综合征患儿。该妇女再次受孕，要求产前诊断。方法孕妇于妊娠26周时在常规B超引导下，经羊膜腔穿刺抽取胎儿脐带血进行细胞培养，染色体核型分析，并用15号染色体含有15q11-13的特异位点的双色探针进行荧光原位杂交。结果胎儿染色体核型为47，XX，＋mar与母亲核型相同，双色荧光原住杂交结果提示15q11—13没有缺失。孕妇于40周时剖腹产一个健康女婴，现孩子生长发育正常。结论对潜在染色体病风险胎儿进行产前诊断非常重要，以避免染色体病孩子的出生。Objective To report the prenatal diagnosis of a case of pregnancy with the risk of Angleman syndrome. The pregnant woman had adaughte r with Angleman syndrome and a segmental deletion of 15q11-13. When being pregnant the second time, the woman requested us to perform prenatal genetic diagnosis. Methods Chromosome analysis was performed on lymphocytes obtained from the cord blood at the 26 week gestation. Metaphases from the lymphocytes were analyzed by fluorescent in situ hybridization analysis using commercial probes to detect chromosome 15 deletion. Results Fetal karyotype was 47,XX,@mar with a small supernumerary marker chromosome which was the same with her mother. Fluorescent in situ hybridization analysis disclosed 2 signals on the 15q without deletion. A healthy girl was born at the 40 week. Conclusion It is helpful to perform cytogenetical and molecular prenatal diagnosis for fetus with the risk of chromosomal disorders and subsequently for genetic counseling.

关 键 词：Angleman综合征 风险染色体病胎儿 产前遗传学诊断 

分 类 号：R394-33[医药卫生—医学遗传学]