多种技术在1例嵌合型环状X染色体胎儿产前诊断中的联合应用  

Combined application of multiple techniques in prenatal diagnosis of a case of chimeric ring X chromosome fetus

作　　者：任慧颖 王芳[1] 韩美艳 李朔[1] REN Huiying;WANG Fang;HAN Meiyan;LI Shuo(Genetic Testing Center,Women and Children’s Hospital,Qingdao University,Qingdao,Shandong 266034,China)

机构地区：[1]青岛大学附属妇女儿童医院基因检测中心,山东青岛266034

出　　处：《中国优生与遗传杂志》2023年第10期2121-2126,共6页Chinese Journal of Birth Health & Heredity

基　　金：青岛市临床重点专科建设项目。

摘　　要：目的 利用多种技术对1例孕妇无创产前检查提示X染色体数目偏少的胎儿进行细胞及分子遗传学分析,探讨其致病原因。方法 收集胎儿羊水细胞,联合使用羊水细胞染色体G显带核型分析、荧光原位杂交、荧光定量聚合酶链反应、染色体微阵列分析技术,并对其进行产前诊断。结果 胎儿羊水染色体核型为45,X[34]/46,X,r(X)(::p21.1→q21.1::q26.2::)[16],CMA结果为arr[hg19] Xp22.33p21.1(168,551-36,345,937)x1,Xp21.1q21.1(36,345,938-82,025,634)x1~2,Xq21.1q26.2(82,025,635-130,609,928)x1,Xq26.2(130,610,054-130,821,538)x1~2,Xq26.2q28(130,989,602-155,233,098)x1。结论 多种技术联合应用更精准地诊断环状X染色体的胎儿,明确了胎儿疾病的严重程度,为孕妇遗传咨询提供可靠的依据。Objective Cytogenetic and molecular genetic analysis was performed using multiple techniques to investigate the causative factors in a fetus with a low number of X chromosomes suggested by a noninvasive prenatal test in a pregnant woman.Methods Fetal amniotic fluid cells were collected and combined with amniotic fluid cell chromosome G ribbon karyotyping,fluorescence in situ hybridization,fluorescence quantitative polymerase chain reaction,and chromosome microarray analysis techniques,and their prenatal diagnosis was performed.Results the karyotype of fetal amniotic fluid cells was 45,X[34]/46,X,r(X)(::p21.1→q21.1::q26.2::)[16],and the result of the CMA analysis was arr[hg19]Xp22.33p21.1(168,551-36,345,937)x1,Xp21.1q21.1(36,345,938-82,025,634)x1~2,Xq21.1q26.2(82,025,635-130,609,928)x1,Xq26.2(130,610,054-130,821,538)x1~2,Xq26.2q28(130,989,602-155,233,098)x1.Conclusion The combined application of multiple techniques more accurately diagnoses fetuses with ring X chromosomes,clarifies the severity of the disease in the fetus,and provides a reliable basis for genetic counseling of pregnant women.

关 键 词：环状染色体 染色体核型分析 荧光原位杂交 染色体微阵列分析 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]