Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure.
10.3760/cma.j.cn511374-20200413-00259
- 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
2. The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, Guangdong 518020, China. guohui600@163.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.
