一个t（3；22）不平衡易位导致精神发育迟滞家系的临床及遗传学分析  

Clinical and molecular cytogenetic analysis of a family with mental retardation caused by an unbalanced translocation involving chromosomes 3 and 22

作　　者：张开慧[1] 董睿[1] 黄艳[2] 杨亚丽[2] 王莹[1] 张海燕[1] 张玉凤[1] 刘毅[1] 盖中涛[2] 

机构地区：[1]山东大学齐鲁儿童医院儿科研究所,济南250022 [2]山东大学齐鲁儿童医院康复科,济南250022

出　　处：《中华医学遗传学杂志》2017年第1期30-34,共5页Chinese Journal of Medical Genetics

基　　金：山东省科技计划基金资助（2013GSF11829）;济南市5150引才计划（20140217）;济南市优秀科技创新团队（20150519）

摘　　要：目的对1例不明原因精神发育迟滞患儿及其家系进行遗传学分析，以明确诊断。方法常规染色体核型分析患儿及其家系成员的外周血染色体，再以染色体微阵列检测微缺失／微重复，荧光原位杂交技术验证微阵列检测结果。结果患儿与家系内同症患者表型一致，染色体核型结果相同，为46，XN，der（22）t（3；22）（q28；q13）pat；其父亲与5位亲属染色体核型为46，XN，t（3；22）（q28；q13），母亲及其他成员正常；患儿染色体微阵列分析示chr3q28q29区域发生9．0Mb三拷贝重复，chr22q13．3区域发生1．7Mb单拷贝缺失，荧光原位杂交技术验证了上述结果。结论该患儿家系中同症患者的异常表型符合3q和22q非平衡易位导致的22q13．3缺失综合征和3q重复综合征，是由于亲代染色体平衡易位产生不正常配子遗传给下一代造成。Objective To explore the genetic cause of a Chinese boy with unexplained mental retardation, and analyze the pattern of inheritance for his family. Methods Routine karyotyping, chromosomal microarray analysis （CMA）, and fluorescence in situ hybridization （FISH） were used to detect chromosome abnormalities in the patient and his families. Results Chromosome analysis suggested that the proband and 7 affected individuals had an identical karyotype 46, XN, der（22） t （3 ; 22） （q28 ; q13） pat, while his father and 5 other relatives carried a same karyotype of 46, XN, t （3;22）（q28;q13）. His mother and other family members were normal. CMA analysis confirmed that the patient had a 9.0 Mb duplication at 3q28q29, in addition with a 1.7 Mb deletion at 22q13.3. Above results were confirmed by FISH. Conclusion The abnormal phenotypes of the proband and his family members from five generations have conformed to those of 3q duplication and 22q13.3 deletion caused by unbalanced translocation involving chromosomes 3q and 22q. The presence of multiple patients in this family may be attributed to abnormal gametes produced by parental balanced translocations involving 3q and 22q.

关 键 词：精神发育迟滞 22q13.3微缺失综合征 3q重复综合征 平衡易位 染色体微阵列分析 

分 类 号：R440[医药卫生—诊断学] R749.94[医药卫生—临床医学]