特殊8号染色体复杂结构重排1例的产前诊断及遗传学分析  

Prenatal diagnosis and genetic analysis of a special case with complex structural rearrangements of chromosome 8

作　　者：曾艳[1] 罗婷婷[1] 钱飞燕[1] 程德华[2] 陈彩平[1] 范佳鸣[1] 张丽芳[1] 张涛[1] 李红梅[1] 吴志强 Zeng Yan;Luo Tingting;Qian Feiyan;Cheng Dehua;Chen Caiping;Fan Jiaming;Zhang Lifang;Zhang Tao;Li Hongmei;Wu Zhiqiang(Prenatal Diagnosis Center,Shaoxing Women and Children′s Hospital,Shaoxing,Zhejiang 312000,China;Institute of Reproductive and Stem Cell Engineering,Central South University,Changsha,Hunan 410008,China;Xiangyin Medical Laboratory Co.,Ltd.,Hangzhou,Zhejiang 310005,China)

机构地区：[1]绍兴市妇幼保健院产前诊断中心,绍兴312000 [2]中南大学生殖与干细胞工程研究所,长沙410008 [3]杭州祥音医学检验实验室有限公司,杭州310005

出　　处：《中华医学遗传学杂志》2023年第9期1181-1184,共4页Chinese Journal of Medical Genetics

基　　金：绍兴市妇幼保健院科技研究发展基金(2021YF001)。

摘　　要：目的报告1例特殊的8号染色体复杂结构重排的产前诊断病例。方法选取2021年5月18日于绍兴市妇幼保健院就诊的1例孕妇为研究对象。对颈后透明带(NT)增厚的胎儿进行羊水染色体核型分析、染色体微阵列分析(CMA)以及荧光原位杂交(FISH)检测。结果羊水核型检查发现胎儿8号染色体短臂增长,FISH检测发现其8号短臂末端存在着丝粒信号,但未见亚端粒信号。CMA检测证实8号染色体短臂存在部分缺失[8p23.3(208049_2256732)×1]以及部分重复[8p23.3p23.2(2259519_3016818)×3],长臂存在部分重复[8q11.1q12.2(45951900_60989083)×3]。结论本研究胎儿8号染色体复杂结构重排与常见的inv dup del(8p)形成机制有所不同。ObjectiveTo present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8.MethodsChromosome karyotyping,chromosomal microarray analysis(CMA)and fluorescence in situ hybridization(FISH)were carried out for a fetus with increased nuchal thickness.ResultsThe karyotype of the amniotic fluid sample showed extra materials on 8p.FISH revealed centromeric signal at the end of 8p with absence of telomeric signal.CMA revealed partial deletion of 8p23.3[(208049_2256732)×1],partial duplication of 8p23.3p23.2[(2259519_3016818)×3],and partial duplication of 8q[8q11.1q12.2(45951900_60989083)×3].ConclusionThe complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).

关 键 词：8号染色体 荧光原位杂交 产前诊断 复杂重排 

分 类 号：R714.5[医药卫生—妇产科学]