Genetic analysis of a 45,X male fetus.
10.3760/cma.j.cn511374-20190617-00295
- VernacularTitle:45，X男性胎儿产前诊断的病例研究
- Author:
Yan ZENG
1
;
Dehua CHENG
;
Jian ZHAO
;
Feiyan QIAN
;
Jiaming FAN
;
Ting WANG
;
Tao ZHANG
Author Information
1. Center for Prenatal Diagnosis, Shaoxing Women and Children's Health Care Hospital, Zhejiang 312000, China. 2560336019@qq.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(10):1176-1178
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the prenatal diagnosis procedure for a 45,X male fetus.
METHODS:A 31-year-old women underwent amniocentesis due to a moderate risk of trisomy 21. The fetal cells were subjected to chromosomal karyotyping, BACs-on-Beads (BoBs) assay, chromosomal microarray analysis and fluorescence in situ hybridization.
RESULTS:Combined analyses revealed that the whole of Yp has translocated to 21p, which yielded a fetal karyotype of 45,X,dic(Y;21)(q11;p11).ishdic(Y;21)(SRY+,CEPY+;CEP21+).
CONCLUSION:BoBs and modified N-banding method are helpful for the diagnosis of 45,X male fetus with Yp translocation.
