三例Y染色体重排致性发育异常患儿的遗传学分析  

Genetic analysis of three children with disorders of sex development caused by structural rearrangements of Y chromosome

作　　者：王红英 陈临琪[3] 陈元元[2] 沈亦平[4] 李莉 邵雪君 李海波[6] Wang Hongying;Chen Linqi;Chen Yuanyuan;Shen Yiping;Li Li;Shao Xuejun;Li Haibo(Department of Clinical Laboratory,Wujiang District Children’s Hospital,Suzhou,Jiangsu 215234,China;Department of Clinical Laboratory,Children’s Hospital of Soochow University,Suzhou,Jiangsu 215000,China;Department of Endocrinology,Children’s Hospital of Soochow University,Suzhou,Jiangsu 215003,China;Boston Children’s Hospital Affiliated to Harvard Medical School,Boston,MA 02115,USA;Department of Gynecology and Obstetrics,Yinchuan Maternal and Child Health Care Hospital,Yinchuan,Ningxia 750000,China;Center for Birth Defect Prevention,Ningbo Women and Children’s Hospital,Ningbo,Zhejiang 215002,China)

机构地区：[1]苏州市吴江区儿童医院检验科,江苏215234 [2]苏州大学附属儿童医院检验科,江苏215000 [3]苏州大学附属儿童医院内分泌科,江苏215003 [4]Boston Children’s Hospital Affiliated to Harvard Medical School,MA 02115 USA [5]银川市妇幼保健院妇产科,750000 [6]宁波市妇女儿童医院,宁波市出生缺陷综合防治中心,浙江315012

出　　处：《中华医学遗传学杂志》2020年第11期1226-1232,共7页Chinese Journal of Medical Genetics

基　　金：苏州市民生科技项目(SS201647);宁波市生殖医学品牌学科(PPXK2018-06);宁夏回族自治区科技惠民专项(2016KJHM22);宁波市科技计划项目(2019C50070)。

摘　　要：目的探讨3例罕见Y染色体重排导致的性发育异常患儿的临床和遗传学致病机制,为临床诊疗和遗传咨询提供依据。方法对3例身材矮小、性发育异常患儿联合应用外周血G显带核型分析、多重PCR检测Y染色体SRY基因及无精症因子(azoospermia factor,AZF)a、b、c区域缺失情况、SRY基因全基因测序、全基因组染色体微阵列分析(chromosomal mlcroarray analysis,CMA)、荧光原位杂交(fluorescence in situ hybridization,FISH)等遗传学技术进行检测分析。结果综合分析发现3例患儿的染色体异常,其核型分别为:46,X,t(X;Y)(p22.3;q11.2)、mos 45,X,der(7)pus dic(Y;7)(p11.3p22)del(7)(p21.2p21.3)del(7)(p12.3p14.3)[56]/45,X[44]和mos45,X[50]/46,X,idic(Y)(q11.22)[42]/47,X,idem×2[4]/47,XYY[2]。结论联合运用多种分子遗传学检测技术明确了3例DSD患者的遗传学病因,我们的研究结果为临床诊断和遗传咨询提供了重要依据。Objective To explore the genetic basis of three children with disorders of sex development(DSD)in association with rare Y chromosome rearrangements.Methods The three children,who all featured short stature and DSD,were subjected to G-banding chromosomal karyotyping,multiplex PCR for Y chromosomal microdeletion,sequencing of the whole SRY gene,SNP-array analysis for genomic copy number variations,and fluorescence in situ hybridization(FISH).Results The combined analysis revealed chromosomal abnormalities in all of the three children,including 46,X,t(X;Y)(p22.3;q11.2)incase 1,mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3)del(7)(p12.3p14.3)[56]/45,X[44]in case 2,and mos 45,X[50]/46,X,idic(Y)(q11.22)[42]/47,X,idem×2[4]/47,XYY[2]in case 3.Conclusion Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD.Above findings have enabled molecular diagnosis and genetic counseling for the patients.

关 键 词：性发育异常 全基因组染色体微阵列分析 Y染色体微缺失 

分 类 号：R725.9[医药卫生—儿科]