母源平衡易位致1q21.3-qter重复和Xpter-p11缺失患儿的遗传学分析  

Clinical genetic analysis of an infant with 1q21.3-qter duplication and Xpter-p11 deletion caused by maternal balanced chromosomal translocation

作　　者：林琳 赵琛 吕艳春[4] 赵向宇 李琳[1] Lin Lin;Zhao Chen;Lv Yanchun;Zhao Xiangyu;Li Lin(Institute of Genetics,Linyi People’s Hospital,Linyi,Shandong 276000,China;Department of Obstetrics,Linyi People’s Hospital,Linyi,Shandong 276000,China;Department of Neurology,Weifang People’s Hospital,Weifang,Shandong 261000,China;Department of Otolaryngology,Weifang Traditional Chinese Hospital,Weifang,Shandong 261000,China)

机构地区：[1]临沂市人民医院遗传研究所,临沂276000 [2]临沂市人民医院产科,临沂276000 [3]潍坊市人民医院神经内科,潍坊261000 [4]潍坊市中医院耳鼻喉科,潍坊261000

出　　处：《中华医学遗传学杂志》2022年第5期514-517,共4页Chinese Journal of Medical Genetics

基　　金：山东省重点研发计划(2017GSF218072);山东省自然科学基金(ZR2020QH047)。

摘　　要：目的对一例疑似智力障碍、多发畸形、多体毛并伴高胆红素血症的患儿进行遗传学分析,探讨异常染色体核型与临床表型的相关性。方法患儿及其家庭成员进行常规染色体G显带核型分析,应用染色体微阵列(chromosomal microarray analysis,CMA)和荧光原位杂交(fluorescence in situ hybridization,FISH)技术对患儿进行染色体畸变检测及验证。结果患儿染色体核型为46,X,der(X)t(X;1)(p11.22;q21.3)mat,CMA及FISH检测结果为arr[hg19]1q21.3q44(154150038-247174955)×3,Xp22.33p11.22(262758-54792891)×1;患儿母亲的染色体核型为46,X,t,(X;1)(p11.22;q21.3)。结论患儿X染色体及1号染色体的拷贝数变异源自母亲的t(X;1)平衡易位,Xpter-p11.22缺失和1q21.3-qter重复是该患儿异常表型的遗传学病因。Objective To investigate the clinical phenotype and genetic diagnosis of an infant featuring multiple hair and hyperbilirubinemia.Methods Conventional G-banding analysis,chromosomal microarray analysis(CMA)and fluorescence in situ hybridization(FISH)for the patient were conducted,G-banding analyses of peripheral blood for the infant’s parents were also performed.Results We investigated an infant who carries a unbalanced,maternally inherited karyotype 46,X,der(X)t(X;1)(p11.22;q21.3)in which CMA and FISH analyses disclosed a 1q21.3q44 duplication of 93.03 Mb and Xp22.33p11.22 deletion of 54.53 Mb.Conclusion The phenotypes of this infant can probably be attributed to the 1q21.3q44 duplication and Xp22.33p11.22 deletion,which were maternally inherited.

关 键 词：Xpter-p11.22缺失 1q21.3-qter重复 平衡易位 染色体微阵列分析 荧光原位杂交技术 

分 类 号：R725.9[医药卫生—儿科]