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
罗婷婷 1曾艳 1张丽芳1
作者信息
- 1. 绍兴市妇幼保健院,浙江绍兴 312000
- 折叠
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]3q 11.2q 13.13(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.
Abstract
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Key words
prenatal diagnosis/chromosome microarray analysis/chromosome karyotype/partial trisomy 3q/genetic counseling引用本文复制引用
基金项目
浙江省基础公益研究计划(LTGY23H040005)
出版年
2024
NETL
NSTL
万方数据