摘要
目的对1例智力低下患儿进行遗传学诊断,明确其病因并为家系的遗传咨询和产前诊断提供依据.方法应用单核苷酸多态微阵列芯片(single nucleotide polymorphism-based arrays,SNP-array)对患儿及其父母行基因组DNA扫描分析,结合G显带核型分析及荧光原位杂交(fluorescence in situ hybridization,FISH)确诊患儿染色体异常片段的来源.结果SNP-array芯片检测显示患儿在2q33.3q36.3区间存在25.7Mb的重复,综合G显带核型分析和FISH检测提示患儿母亲核型为46,XX,ish ins(11;2)(p15;q33q36),患儿携带1条由母亲近2q和11p末端插入易位形成的11号衍生染色体,核型为46,XY,ish der(11)ins(11;2)(p15;q33q36)mat.结论通过SNP-array、G显带和FISH技术诊断本家系的插入易位,明确了患儿病因,为家系的遗传咨询和产前诊断提供了依据.
Objective To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.Methods Conventional karyotyping,fluorescence in situ hybridization(FISH)and single nucleotide polymorphism based array(SNP-array)were used to analyze the boy and his parents.Results SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy.Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46,XX,ish ins(11;2)(p15;q33q36),and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation.The karyotype of the boy was ascertained as 46,XY,ish der(11)ins(11;2)(p15;q33q36)mat.Conclusion SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.
作者
马娜
庞佳伦
彭莹
贾政军
席惠
刘国英
周玉春
王华
Ma Na;Pang Jialun;Peng Ying;Jia Zhengjun;Xi Hui;Liu Guoying;Zhou Yuchun;Wang Hua(Department of Medical Genetics,Hunan Provincial Maternal and Child Health Care Hospital,Changsha,Hunan 410008,China;National Health Committee Key Laboratory of Birth Defects Research,Prevention and Treatment,Changsha,Hunan 410008,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第12期1199-1202,共4页
Chinese Journal of Medical Genetics
基金
湖南省创新平台与人才计划项目(2015TP2029)
湖南省自然科学基金(2018JJ3274).
关键词
插入型易位
核型分析
单核苷酸多态微阵列芯片技术
荧光原位杂交
尿道下裂
Cryptic translocation
Karyotyping
Single nucleotide polymorphism-based array analysis
Fluorescence in situ hybridization
Hypospadia
作者简介
通信作者:王华,Email:wanghua213@aliyun.com
