一例嵌合型13q倒位重复胎儿的遗传学分析  

Genetic analysis of a fetus with mosaicism of 13q inversion duplication

作　　者：罗婷婷[1] 车铭 程德华[2] 张丽芳[1] 张涛[1] 曾艳[1] Luo Tingting;Che Ming;Chen Dehua;Zhang Lifang;Zhang Tao;Zen Yan(Shaoxing Maternal and Child Health Care Hospital,Shaoxing,Zhejiang 312000,China;Institute of Reproduction and Stem Cell Engineering,Central South University,Changsha,Hunan 410078,China)

机构地区：[1]绍兴市妇幼保健院,浙江312000 [2]中南大学生殖与干细胞工程研究所,长沙410008

出　　处：《中华医学遗传学杂志》2022年第1期76-80,共5页Chinese Journal of Medical Genetics

基　　金：浙江省医药卫生科技计划(2020KY986)。

摘　　要：目的分析1例产前诊断的嵌合型13q倒位重复的形成机制,探讨其基因型与表型的对应关系。方法分别于孕23周和孕32周抽取胎儿羊水和脐带血样,联合应用G显带染色体核型分析、单核苷酸多态性微阵列和荧光原位杂交技术对其进行检测,并复习相关文献。结果胎儿的核型最终被确定为47,XY,+inv dup(13)(q14.3q34)/46,XY。孕妇于40周生育一男婴,除鼻梁处有一红斑(血管瘤)外,暂未发现其他异常。结论嵌合型13q倒位重复病例应充分考虑其新着丝粒的位置和嵌合比例,为遗传咨询和风险评估提供参考。Objective To report on a case of mosaicism 13q inversion duplication,analyze its mechanism,and discuss the correlation between its genotype and phenotype.Methods Amniotic fluid and umbilical cord blood were collected at 23 and 32 weeks of gestation,respectively.Combined with G-banding chromosome karyotyping analysis,single nucleotide polymorphism array(SNP-array)and fluorescence in situ hybridization(FISH)were used to confirm the result.Results The karyotype of the fetus was determined as 47,XY,+inv dup(13)(q14.3q34)/46,XY.After careful counseling,the couple decided to continue with the pregnancy,and had given birth to a boy at 40 weeks’gestation.Except for a red plaque(hemangioma)on the nose bridge,no obvious abnormality(intelligence to be evaluated)was discovered.Conclusion To provide reference for clinical genetic counseling and risk assessment,the location and proportion of new centromere formation should be fully considered in the case of mosaicism 13q inversion duplication.

关 键 词：13q倒位重复 新着丝粒 嵌合 

分 类 号：R714.5[医药卫生—妇产科学]