X/Y染色体间不平衡易位的临床遗传学分析  

Clinical genetic analysis of imbalanced translocation between X and Y chromosome

作　　者：丛潇怡 刘维强 裴元元[1] 牛宏艳 刘效伊 胡亮[1] 陈婧 郭岩芸 CONG Xiaoyi;LIU Weiqiang;PEI Yuanyuan;NIU Hongyan;LIU Xiaoyi;HU Liang;CHEN Jing;GUO Yanyun(Central Laboratory,Longgang District Maternity&Child Healthcare Hospital of Shenzhen City,Shenzhen,Guangdong 518172,China;Longxi Community Center,Longgang District People's Hospital of Shenzhen City,Shenzhen,Guangdong 518172,China)

机构地区：[1]深圳市龙岗区妇幼保健院中心实验室,广东深圳518172 [2]深圳市龙岗区人民医院龙禧社康中心,广东深圳518172

出　　处：《中国优生与遗传杂志》2022年第4期615-618,共4页Chinese Journal of Birth Health & Heredity

基　　金：龙岗区科技局课题(LGKCYLWS2020157)。

摘　　要：目的 探讨X与Y染色体不平衡易位患者的遗传效应及其临床特征,并比较各种染色体检测技术的临床应用价值。方法 利用高分辨染色体G显带技术、染色体C显带技术以及微阵列比较基因组杂交技术(array-CGH)对因身材矮小、语言发育迟缓来我院就诊的1例患儿进行染色体检查,并对其家系成员通过G显带核型分析或array-CGH检测分析系谱。结果 患儿染色体G显带结果为46,X,der(X)t(X;Y)(p22.3;q11.21)pat;C显带结果提示异常X染色体末端为异染色质;array-CGH结果提示在X染色体Xp22.33→pter位置发生杂合缺失,片段大小约2.7 Mb,Y染色体Yq11.21→qter位置片段存在,片段大小约14.2Mb。结论 X与Y染色体不平衡易位的患者临床表型具有一定的异质性,X染色体缺失或重复片段较大时可引起女性生长发育迟缓、性腺发育异常及不良妊娠等。高分辨染色体G显带联合array-CGH技术,可提供染色体平衡或不平衡易位的遗传机制、染色体片段来源、大小、所含基因数量及其相应的编码功能信息,对疾病的干预治疗和再发风险评估具有非常重要的意义。Objective To explore the clinical features of patients with imbalanced translocation between X and Y chromosome, and to compare the clinical application value of various chromosome detection techniques. Methods The clinical characteristics of the patients with short stature and language development delay in our hospital were analyzed by using high resolution chromosome G banding, chromosome C banding and array-CGH. Results Chromosome G-banding showed 46,X,der(X)t(X;Y)(p22.3;q11.21)pat. C-banding showed that the end of abnormal X chromosome was heterochromatin. Array-CGH results suggested that there was a heterozygous deletion at Xp22.33→pter on X chromosome with a fragment size of about 2.7 Mb, and a fragment at Yq11.21→qter on Y chromosome with a fragment size of about 14.2 Mb. Conclusion The clinical phenotypes of patients with imbalanced translocation of X and Y chromosomes are different. High resolution chromosome G banding combined with array-CGH can provide information on the genetic mechanism of chromosome balance or imbalance, number of genes contained and their corresponding coding functions. It is of great significance for disease intervention and recurrence risk assessment.

关 键 词：X/Y染色体 不平衡易位 ARRAY-CGH 生长发育迟缓 

分 类 号：R725.9[医药卫生—儿科] R440[医药卫生—临床医学]