Prenatal diagnosis of a fetus with 8q13.3 microdeletion through chromosomal microarray analysis.
10.3760/cma.j.cn511374-20200217-00086
- VernacularTitle:染色体微阵列产前诊断8q13.3微缺失一例
- Author:
Huihua RAO
1
,
2
;
Yanqiu LIU
;
Juhua XIAO
;
Yongyi ZOU
;
Huizhen YUAN
Author Information
1. Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Health Care Hospital, Nanchang, Jiangxi 330006, China. lyq0914@
2. com.
- Publication Type:Journal Article
- MeSH:
Chromosome Aberrations;
Chromosome Deletion;
Chromosomes, Human, Pair 8;
DNA Copy Number Variations;
Female;
Fetus;
Humans;
Karyotyping;
Microarray Analysis;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(3):268-270
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography.
METHODS:The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis.
RESULTS:The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13) translocation which was inherited from its mother. CMA has found no copy number variations (CNVs) in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3.
CONCLUSION:CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.
