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作 者:罗婷婷[1] 范佳鸣[1] 车铭 张丽芳[1] 曾艳[1] 郭河清[1] LUO Tingting;FAN Jiaming;CHE Ming;ZHANG Lifang;ZEN Yan;GUO Heqing(Shaoxing Maternal and Child Health Care Hospital,Shaoxing,Zhejiang 312000,China)
出 处:《中国优生与遗传杂志》2021年第7期974-976,共3页Chinese Journal of Birth Health & Heredity
基 金:2018年绍兴市科技计划项目(2018C30037)。
摘 要:目的报道一例嵌合型i(20)(q10)伴15q21.2微缺失胎儿的病例,并通过复习相关文献探讨其基因型及表型的相关性,为临床遗传咨询提供参考。方法于孕19 w+5d抽取胎儿羊水,分别行G显带染色体核型分析,产前细菌人工染色体微球(BoBs)检测和单核苷酸多态性微阵列芯片(SNP array)检测确诊该病例并复习相关文献。结果 (1)确诊该病例:胎儿羊水染色体核型为46,XY,i(20)(q10)[9]/46,XY[41],其父母染色体核型均未见异常。产前BoBs检测结果未见异常。胎儿SNP array结果提示arr[hg19]15q21.2(52,369,235-52,436,590)×1,15号染色体q21.2区段存在67.3 kb片段的缺失。综上,胎儿的核型为46,XY,i(20)(q10)[9]/46,XY[41],伴15q21.2微缺失。(2)妊娠结局:孕妇选择终止妊娠。结论产前诊断发现的i(20)(q10)嵌合体需结合超声诊断有无发现胎儿畸形,对孕妇及配偶进行不同思路的产前咨询。Objective This paper reports a case of mosaic i(20)(q10) with 15 q21.2 microdeletion, discusses the correlation between genotype and phenotype by reviewing relevant literature, so as to provide reference for clinical genetic counseling. Methods Fetal amniotic fluid was extracted at 19 w+5 d gestational weeks. The karyotype analysis of G-banding chromosome, prenatal detection of bacterial artificial chromosome on beads(BoBs) and single nucleotide polymorphism microarray(SNP array) were performed to confirm the diagnosis of the case. The relevant literature was reviewed. Results(1)The case was confirmed: the karyotype of amniotic fluid was 46,XY,i(20)(q10)[9]/46,XY[41]. The karyotype of both parents was normal. The results of prenatal BoBs test were normal. The results of SNP array showed that arr[hg19]15 q21.2(52,369,235-52,436,590)×1, there was a 67.3 kb deletion in q21.2 of chromosome 15. In conclusion, the karyotype of fetus is 46,XY,i(20)(q10)[9]/46,XY[41], with 15 q21.2 microdeletions.(2) Pregnancy outcome: pregnant women choose to terminate pregnancy. Conclusion Prenatal diagnosis of i(20)(q10) mosaicism should be combined with ultrasound diagnosis of fetal malformations, pregnant women and their spouses to carry out different ideas of prenatal counseling.
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