6q26q27微重复合并15q26.3微缺失一个家系的遗传学分析

doi:10.3760/cma.j.cn511374-20211027-00852

科研成果详情

题名	6q26q27微重复合并15q26.3微缺失一个家系的遗传学分析
其他题名	Genetic analysis of a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion
作者	王丹; 卢朝升; 石佳旻; 陈源; 朱棉棉; 王楸; 阮妙华
发表日期	2023-06-10
发表期刊	中华医学遗传学杂志影响因子和分区
语种	中文
原始文献类型	Periodical
关键词	胎儿 6q26q27微重复 15q26.3微缺失遗传咨询拷贝数变异
其他关键词	Fetus ; 6q26q27 microduplication ; 15q26.3 microdeletion ; Genetic counseling ; Copy number variation
摘要	目的:对1个6q26q27微重复合并15q26.3微缺失的家系进行遗传学分析。方法:选取2021年1月在温州医科大学附属第一医院就诊的1例6q26q27微重复合并15q26.3微缺失的胎儿及其家系成员为研究对象。收集胎儿的临床资料，对胎儿及其父母进行G显带染色体核型分析和染色体微阵列分析(CMA)，对其外祖父母进行核型分析。结果:产前超声提示胎儿宫内生长发育迟缓。胎儿及其家系成员的核型分析均未见异常。CMA检测提示胎儿携带染色体6q26q27区6.6 Mb的片段重复以及15q26.3区1.9 Mb的片段缺失，其母亲携带相同区域6.49 Mb的重复和1.867 Mb的缺失，其父亲未见异常。结论:染色体6q26q27微重复和15q26.3微缺失可能是本例胎儿生长发育迟缓的遗传学病因。
其他摘要	Objective:To explore the genetic basis for a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion.Methods:A fetus with a 6q26q27 microduplication and a 15q26.3 microdeletion diagnosed at the First Affiliated Hospital of Wenzhou Medical University in January 2021 and members of its pedigree were selected as the study subject. Clinical data of the fetus was collected. The fetus and its parents were analyzed by G-banding karyotyping and chromosomal microarray analysis (CMA), and its maternal grandparents were also subjected to G-banding karyotype analysis.Results:Prenatal ultrasound had indicated intrauterine growth retardation of the fetus, though no karyotypic abnormality was found with the amniotic fluid sample and blood samples from its pedigree members. CMA revealed that the fetus has carried a 6.6 Mb microduplication in 6q26q27 and a 1.9 Mb microdeletion in 15q26.3, and his mother also carried a 6.49 duplication and a 1.867 deletion in the same region. No anomaly was found with its father.Conclusion:The 6q26q27 microduplication and 15q26.3 microdeletion probably underlay the intrauterine growth retardation in this fetus.
资助项目	国家自然科学基金(82171701)。
ISSN	1003-9406
卷号	40 期号:6 页码:733-736
DOI	10.3760/cma.j.cn511374-20211027-00852
页数	4
收录类别	万方 ; 维普 ; CSCD ; ISTIC ; 北大核心
URL	查看原文
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/206571
专题	附属第一医院_儿科
作者单位	温州医科大学附属第一医院儿科，温州　325015
第一作者单位	附属第一医院_儿科
第一作者的第一单位	附属第一医院_儿科
推荐引用方式 GB/T 7714	王丹,卢朝升,石佳旻,等. 6q26q27微重复合并15q26.3微缺失一个家系的遗传学分析[J]. 中华医学遗传学杂志,2023,40(6):733-736.
APA	王丹., 卢朝升., 石佳旻., 陈源., 朱棉棉., ... & 阮妙华. (2023). 6q26q27微重复合并15q26.3微缺失一个家系的遗传学分析. 中华医学遗传学杂志, 40(6), 733-736.
MLA	王丹,et al."6q26q27微重复合并15q26.3微缺失一个家系的遗传学分析".中华医学遗传学杂志 40.6(2023):733-736.