南方科技大学知识苑(SUSTech KC): Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure

题名	Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure
作者	Wang，Lijuan 1; Gao，Hui 2; Ma，Di 2; Hu，Zhiyang 2; Lin，Linhua 2; Hu，Wenlong 2; Ye，Mei 2; Guo，Hui 2
发表日期	2021-10-10
DOI	10.3760/cma.j.cn511374-20200413-00259
发表期刊	中华医学遗传学杂志影响因子和分区
ISSN	1003-9406
卷号	38 期号:10页码:961-965
摘要	OBJECTIVE: To perform prenatal diagnosis, pedigree analysis, and genetic counseling of a pregnant woman who gave birth to a child with Kleefstra syndrome. METHODS: Karyotype analysis, chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) were used of peripheral blood and amniotic fluid to find causes. Recurrence risk assessment was performed later. RESULTS: The amniotic fluid sample showed a 9q34.3 microduplication of arr (hg19) 9q34.3 (140 168 806-141 020 389)× 3, which overlapped the 9q34.3 microdeletion region of proband. The pregnant woman was detected with a balanced translocation of ish, t(9;17)(9q34.3; qter) (9p+; 17p+,9q+, 17q+). No other abnormal results were found in the family. CONCLUSION: Offspring who share the same chromosome segment deletion or duplication are always from parent who carries balanced chromosomal structural aberration.
相关链接	[Scopus记录]
语种	英语
学校署名	第一
Scopus记录号	2-s2.0-85118285913
来源库	Scopus
引用统计	被引频次[WOS]：0
成果类型	期刊论文
条目标识符	http://sustech.caswiz.com/handle/2SGJ60CL/254844
专题	南方科技大学第一附属医院
作者单位	1.Forensic Evidence Laboratory, Shenzhen People's Hospital (The Second Clinical Medical College,Jinan University; The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, Guangdong 518020, China. guohui600@163.com 2.
第一作者单位	南方科技大学第一附属医院
第一作者的第一单位	南方科技大学第一附属医院
推荐引用方式 GB/T 7714	Wang，Lijuan,Gao，Hui,Ma，Di,et al. Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure[J]. 中华医学遗传学杂志,2021,38(10):961-965.
APA	Wang，Lijuan.,Gao，Hui.,Ma，Di.,Hu，Zhiyang.,Lin，Linhua.,...&Guo，Hui.(2021).Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure.中华医学遗传学杂志,38(10),961-965.
MLA	Wang，Lijuan,et al."Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure".中华医学遗传学杂志 38.10(2021):961-965.