Genetic analysis of a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion

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

科研成果详情

题名	Genetic analysis of a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion
其他题名	Genetic analysis of a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion
作者	Dan Wang; Chaosheng Lu; Jiamin Shi; Yuan Chen; Mianmian Zhu; Qiu Wang; Miaohua Ruan
发表日期	2023-06-10
发表期刊	Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 影响因子和分区
语种	中文
原始文献类型	English Abstract ; Journal Article
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	To explore the genetic basis for a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion., 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., 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., The 6q26q27 microduplication and 15q26.3 microdeletion probably underlay the intrauterine growth retardation in this fetus.
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.
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	PUBMED ; CSCD ; SCOPUS ; ISTIC ; 北大核心 ; ISTIC ; 万方
URL	查看原文
PubMed ID	37212012
SCOPUSEID	2-s2.0-85159770746
通讯作者地址	[Ruan, Miaohua]Department of Pediatrics,The First Affiliated Hospital of Wenzhou Medical University,Zhejiang,Wenzhou,325000,China
Scopus学科分类	Medicine (all)
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/180539
专题	附属第一医院_儿科
作者单位	Department of Pediatrics, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China. rmh618@126.com.
第一作者单位	附属第一医院_儿科
通讯作者单位	附属第一医院
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	Dan Wang,Chaosheng Lu,Jiamin Shi,et al. Genetic analysis of a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion[J]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,2023,40(6):733-736.
APA	Dan Wang., Chaosheng Lu., Jiamin Shi., Yuan Chen., Mianmian Zhu., ... & Miaohua Ruan. (2023). Genetic analysis of a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 40(6), 733-736.
MLA	Dan Wang,et al."Genetic analysis of a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion".Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 40.6(2023):733-736.