1例潜在Angleman综合征风险妊娠的产前遗传学诊断

摘要

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 diagnosi8. Methods Chromosome analysis was performed on lymphocytes obtained from the cord blood at the 26 week gestation. Metapha8es from the lymphocytes were analyzed by fluorescent in situ hybridization analysis using commercial probe8 to detea 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 p renatal diagnosis for fetus with the risk of chromosomal disorders and subsequently for genetic counseling.%目的 报告1例潜在Angleman综合征风险妊娠的产前遗传学诊断.孕妇曾生育过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,双色荧光原位杂交结果提示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.