Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure.
10.3760/cma.j.cn511374-20200413-00259
- VernacularTitle:染色体平衡性结构异常致9q34.3微缺失/微重复并存家系的遗传学分析
- Author:
Lijuan WANG
1
,
2
;
Hui GAO
;
Di MA
;
Zhiyang HU
;
Linhua LIN
;
Wenlong HU
;
Mei YE
;
Hui GUO
Author Information
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@
2. com.
- Publication Type:Journal Article
- MeSH:
Chromosome Aberrations;
Chromosome Deletion;
Chromosomes, Human, Pair 9/genetics*;
Female;
Genetic Testing;
Humans;
In Situ Hybridization, Fluorescence;
Pregnancy
- From:
Chinese Journal of Medical Genetics
2021;38(10):961-965
- CountryChina
- Language:Chinese
-
Abstract:
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.
