6p25.3杂合缺失伴15q部分三体患者1例的临床表型与遗传学分析  

Clinical phenotype and genetic analysis of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q

作　　者：王海芹 时盼来 侯雅勤[2] 陈铎[2] 何红琴 孔祥东[2] Wang Haiqin;Shi Panlai;Hou Yaqin;Chen Duo;He Hongqin;Kong Xiangdong(Department of Genetics,Yuncheng Maternal and Child Health Care Hospital,Yuncheng,Shanzi 044099,China;Department of Genetics and Prenatal Diagnosis,the First Affiliated Hospital of ZhengzhouUniversity,Zhengzhou,Henan 450052,China)

机构地区：[1]运城市妇幼保健院遗传科,运城044099 [2]郑州大学第一附属医院遗传与产前诊断中心,郑州450052

出　　处：《中华医学遗传学杂志》2023年第8期1028-1031,共4页Chinese Journal of Medical Genetics

基　　金：河南省医学科技攻关计划(联合共建)项目(LHGJ20190130);国家重点研发计划(2018YFC1002203)。

摘　　要：目的探讨1例6p25.3杂合缺失伴15q部分三体患者的临床表型及遗传学特征。方法选取2021年5月14日就诊于郑州大学第一附属医院遗传与产前诊断中心的1例发育异常患者为研究对象。收集患者临床资料,应用染色体G显带核型分析和拷贝数变异测序(CNV-seq)技术对其进行遗传学分析。结果患者主要临床特征为完全性子宫纵隔、阴道纵隔、左眼球萎缩、手指和脚趾异常以及精神发育迟滞。患者核型分析结果为46,XX,der(6)t(6;15)(p25.3;q26.1)。CNV-seq结果提示其染色体6p25.3区和15q26.1q26.3区分别存在1.20 Mb的杂合缺失和10.20 Mb的重复,其中杂合缺失片段包含FOXQ1基因,可能与患者左眼发育异常相关,重复片段与15q26过度生长综合征96.16%的区域重叠(包括IGF1R基因),可能与患者苗勒氏管发育异常、手指和脚趾异常、精神发育迟滞相关。结论染色体6p25.3区杂合缺失和15q26.1q26.3区重复可能是导致患者异常临床表型的遗传学病因。Objective To investigate the clinical phenotype and genetic characteristics of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q.Methods A patient who had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University on May 14,2021 was selected as the study subject.Clinical data of the patient was collected,and G-banded chromosomal karyotyping and copy number variation sequencing(CNV-seq)were carried out.Results The patient′s main clinical features included complete uterine septum,vaginal septum,atrophy of left eyeball,abnormal fingers and toes,and mental retardation.The karyotype of the patient was 46,XX,der(6)t(6;15)(p25.3;q26.1).CNV-seq result has indicated a 1.20 Mb heterozygous deletion in the 6p25.3 region and a 10.20 Mb duplication in the 15q26.1q26.3 region.The deletion segment has included the FOXQ1 gene,which may be related with the abnormal development of the left eye.The duplication segment has a 96.16%overlap with the region associated with 15q26 overgrowth syndrome(including the IGF1R gene),which may be related to the patient′s abnormal development of the Müllerian duct,abnormal fingers and toes,and mental developmental delay.Conclusion The heterozygous deletion of the 6p25.3 region and duplication of the 15q26.1q26.3 region probably underlay the abnormal clinical phenotype in this patient.

关 键 词：苗勒氏管发育异常 精神发育迟滞 6p25.3杂合缺失 15q26.1q26.3重复 

分 类 号：R596[医药卫生—内科学]