罕见母源性3q部分三体胎儿的遗传学分析  

Genetic analysis of a fetus with rare maternal chromosomal 3q partial trisomy

作　　者：罗婷婷[1] 曾艳[1] 张丽芳[1] LUO Tingting;ZENG Yan;ZHANG Lifang(Shaoxing Maternal and Child Health Care Hospital,Shaoxing,ZheJiang,312000,China)

机构地区：[1]绍兴市妇幼保健院,浙江绍兴312000

出　　处：《中国优生与遗传杂志》2024年第4期773-775,共3页Chinese Journal of Birth Health & Heredity

基　　金：浙江省基础公益研究计划项目(LTGY23H040005)。

摘　　要：目的报道一例单纯性3q部分三体胎儿的病例,讨论其发病机制,描述其临床表型,为临床遗传咨询提供参考。方法联合应用胎儿羊水细胞染色体核型分析和染色体微阵列分析(CMA)对胎儿进行产前诊断,抽取胎儿父母外周血行染色体核型分析。结果产前诊断胎儿染色体核型为46,XY,dup(3)(q11.2q13.1),CMA提示arr[GRCh38]3q11.2q13.13(94847215_109492713)x3,遗传自母亲。母亲外周血染色体核型同胎儿,父亲未见明显异常。结论3q11.2q13.1区重复也会有临床表型,且在同一家系里表型不一致,可为遗传咨询提供参考。Objective To report a case of a simplex 3q partial trisomy fetus,and to discuss its pathogenesis,describe its clinical phenotype.Methods Amniotic fluid chromosome karyotype analysis and chromosomal microarray analysis(CMA)were applied for prenatal diagnosis of the fetus.Peripheral blood samples were also collected the couple for chromosome karyotype analysis.Results The chromosome karyotype was 46,XY,dup(3)(q11.2q13.1),and his CMA result was arr[GRCh38]3q11.2q13.13(94847215_109492713)x3.The duplication in the fetus has derived from his mother.No anomaly was found with the father by chromosome karyotype.Conclusion The duplication of 3q11.2q13.1 region may present clinical phenotypes,and the phenotypes were inconsistent within the same family,which has provided reference for genetic counseling.

关 键 词：产前诊断 染色体微阵列分析 染色体核型 3q部分三体 遗传咨询 

分 类 号：R714.5[医药卫生—妇产科学]