Genetic analysis of a 45,X male fetus.

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.