环状13号染色体的细胞遗传学分析  

Cytogenetic analysis of ring chromosome 13

作　　者：范佳鸣[1] 张丽芳[1] 钱飞燕[1] 陈伟萍[1] FAN Jiaming;ZHANG Lifang;QIAN Feiyan;CHEN Weiping(Genetic Laboratory of Shaoxing Women and Children's Health Care Hospital,Shaoxing,Zhejiang 312000,China)

机构地区：[1]绍兴市妇幼保健院遗传室,浙江绍兴312000

出　　处：《中国优生与遗传杂志》2022年第1期99-101,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的对1例产前诊断嵌合型13号环状染色体病例进行遗传学分析,结合国内外报道文献探讨其发生机制及基因型-表型研究,为临床遗传咨询提供参考。方法应用常规G显带染色体核型分析胎儿的染色体核型。结果G显带胎儿核型为46,XX,r(13)[25]/45,XX,-13[24]/46,XX,-13,+mar[5]/47,XX,+2mar[2],夫妻双方拒绝外周血染色体检查及对胎儿进行分子检测。结论对于13号环状染色体综合征的遗传学评估,遗传物质丢失的数量和部位、环的稳定性及嵌合比例的不同会导致临床严重程度多变,所以多种细胞遗传学和细胞分子方法的结合则至关重要。Objective Genetic analysis of a prenatal diagnosis case of chimeric ring chromosome 13,study its pathogenesis and genotype phenotype combined with the reported literature review which can provide reference for clinical genetic counseling.Methods The fetus was subjected to chromosomal karyotyp analysis.Results The fetus chromosome karyotype was 46,XX,r(13)[25]/45,XX,-13[24]/46,XX,-13,+mar[5]/47,XX,+2 mar[2].The parents refused to carry out peripheral blood chromosome examination and further molecular testing of the fetus.Conclusion For the genetic evaluation of ring chromosome 13 syndrome,the number and location of genetic material loss,the stability of the ring and the chimeric ratio will lead to the variation of clinical severity.Therefore,the combination of multiple cytogenetic and molecular detection techniques is very important.

关 键 词：染色体异常 13号环状染色体 生长发育迟缓 

分 类 号：R714.5[医药卫生—妇产科学]