1例父源性46,XX,der(18)t(8;18)(q23.3;q21.3)染色体非平衡易位的遗传学分析  

Genetics analysis in a patient with paternal 46,XX,der(18)t(8;18)(q23.3;q21.3)unbalanced translocation

作　　者：臧伟伟 高明雅 刘晓飞 崔新刚 王亚男 ZANG Weiwei;GAO Mingya;LIU Xiaofei;CUI Xingang;WANG Ya’nan(Department of Medical Genetics and Prenatal Diagnosis,Luoyang Maternal and Child Health Hospital,Luoyang,Henan 471000,China)

机构地区：[1]洛阳市妇幼保健院遗传与产前诊断科,河南洛阳471000

出　　处：《中国优生与遗传杂志》2023年第7期1454-1457,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的对1例唇腭裂、先天性心脏病伴手足畸形的新生儿进行遗传学诊断。方法联合应用常规G显带核型分析技术及CNV-seq测序技术对新生儿进行遗传学检测,并对双亲进行外周血染色体核型分析以明确患儿染色体异常的来源。结果患儿染色体初步定为46,XX,?add(18)(q22)。CNV-seq结果提示患儿8q23.3-8q24.3存在32.1 Mb重复,18q21.32-q23存在19.6 Mb缺失。患儿母亲染色体正常,父亲染色体为46,XY,t(8;18)(q23.3;q21.3)。患儿核型结果最终确定为46,XX,der(18)t(8;18)(q23.3;q21.3)pat。结论患儿携带有8q部分三体和18q部分单体,可能导致严重的临床表型;明确患儿的遗传学病因,指导家庭再次生育。Objective To investigate the genetic diagnosis of a neonate with cleft lip and palate,congenital heart disease and hand-foot deformity.Methods Genetic detection of neonate was performed by using conventional G-banding karyotype analysis and CNV-seq,and karyotype analysis of her parents was performed to identify the source of chromosome abnormalities in the neonate.Results The karyotype of the neonate was preliminarily was determined as 46,XX,?add(18)(q22).CNV-seq detected a 32.1 Mb duplication at 8q23.3-8q24.3 and 19.6 Mb deletion at 18q21.32-q23.The mother had a normal karyotype and the father’s karyotype was 46,XY,t(8;18)(q23.3;q21.3).The neonate was ultimately found to have a karyotype of 46,XX,der(18)t(8;18)(q23.3;q21.3)pat.Conclusion The neonate carried partial trisomy 8q and partial monosomy 18q,which might lead to severe clinical manifestations.Identifying the genetic cause of the neonate enabled us to provide guidance for the family’s next birth.

关 键 词：染色体核型分析 CNV-seq 8q部分三体 18q部分单体 产前诊断 

分 类 号：R722.1[医药卫生—儿科]