6q14.1q16.3缺失致胎儿多发畸形一例  

Multiple Malformations in A Fetus with 6q14.1q16.3 Deletion

作　　者：黄芬芳 黄艳华 胡雪梅 梁佩 HUANG Fen-fang;HUANG Yan-hua;HU Xue-mei;LIANG Pei(Department of Medical Genetics and Prenatal Diagnosis,Qinzhou Maternal and Child Health Hospital,Qinzhou 535099,Guangxi Zhuang Autonomous Region,China)

机构地区：[1]广西壮族自治区钦州市妇幼保健院医学遗传与产前诊断科,535099

出　　处：《国际妇产科学杂志》2024年第3期354-357,共4页Journal of International Obstetrics and Gynecology

摘　　要：6号染色体长臂近端缺失是一种罕见的染色体疾病,常表现为智力低下、发育迟缓和特殊面容等异常。回顾性分析1例多发畸形胎儿的遗传学病因。该病例于2022年12月13日(孕21+1周)因超声提示胎儿多发畸形、无创产前筛查(noninvasive prenatal testing,NIPT)提示胎儿6号染色体异常高风险而行羊膜腔穿刺术,进行常规G显带染色体核型分析和拷贝数变异测序(copy number variation sequencing,CNV-seq),同时对其父母的染色体核型进行检测。羊水常规G显带染色体核型分析示:46,XX,del(6)(q14q16);羊水CNV-seq结果示:6q14.1q16.3(80960000-104640000)区存在23.68 Mb的缺失。综合上述结果考虑该缺失是造成胎儿多发畸形的原因。CNV-seq有利于确定胎儿染色体异常的断裂点,为预测胎儿发生畸形的风险及后续的遗传咨询提供依据,同时丰富了6号染色体长臂近端缺失的产前临床表型谱。Deletion of the proximal long arm of chromosome 6 is a rare chromosomal disorder,which is typically characterized by intellectual disability,developmental delay and abnormal facial features.The genetic etiology of a case of multiple malformation fetus was reviewed.The patient underwent amniocentesis at the 21+1 week of gestation,following findings of multiple fetal malformations indicated by ultrasound and high risk of fetal chromosome 6 abnormality indicated by noninvasive prenatal testing(NIPT).Routine G-banding chromosome karyotype analysis and copy number variation sequencing(CNV-seq)were performed.At the same time,the chromosome karyotypes of the parents were detected.Routine G-banding chromosome karyotype analysis of amniotic fluid showed 46,XX,del(6)(q14q16);CNV-seq results of amniotic fluid showed 23.68 Mb deletion in 6q14.1q16.3(80960000-104640000)region.Combining the above results,it is considered that the deletion is the cause of multiple fetal malformations.CNV-seq proves valuable in identifying the break point of fetal chromosome abnormalities,providing a basis for predicting the risk of fetal malformation and subsequent genetic counseling and enriching the prenatal clinical manifestations of 6q deletion.

关 键 词：6q14.1q16.3缺失 畸形 多发性 DNA拷贝数变异 核型分析 拷贝数变异测序 

分 类 号：R714.5[医药卫生—妇产科学]