Prenatal diagnosis and genetic analysis of a fetus with der(X)t(X;Y)(p22.3;q11.2).
10.3760/cma.j.cn511374-20191203-00617
- VernacularTitle:一例der(X) t(X；Y)(p22.3；q11.2)胎儿的产前诊断及遗传学分析
- Author:
Jian LI
1
,
2
;
Yanling DONG
;
Junnan LI
;
Jianyun LUO
;
Chunlei LI
;
Hongbo QI
Author Information
1. Center of Prenatal Diagnosis, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China. qihongbo728@
2. com.
- Publication Type:Journal Article
- MeSH:
Chromosome Banding;
Chromosome Deletion;
Chromosomes, Human, X/genetics*;
Chromosomes, Human, Y/genetics*;
Female;
Fetus;
Humans;
Karyotyping;
Male;
Pregnancy;
Prenatal Diagnosis;
Translocation, Genetic
- From:
Chinese Journal of Medical Genetics
2020;37(11):1287-1290
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the pathogenesis and genetic characteristics of a fetus with a der(X)t(X;Y)(p22.3;q11.2) karyotype.
METHODS:G-banding karyotyping analysis, BoBs (BACs-on-Beads) assay, and single nucleotide polymorphism array (SNP-array) were used to delineate the structural chromosomal aberration of the fetus. The parents of the fetus were also subjected to karyotyping analysis.
RESULTS:The fetus and its mother were both found to have a karyotype of 46,X,add(X)(p22), while the father was normal. BoBs assay indicated that there was a lack of Xp22 but a gain of Yq11 signal. SNP-array confirmed that the fetus and its mother both had a 7.13 Mb deletion at Xp22.33p22.31 (608 021-7 736 547) and gain of a 12.52 Mb fragment at Yq11.221q11.23 (16 271 151-28 788 643).
CONCLUSION:The fetus was determined to have a karyotype of 46,X,der(X)t(X;Y)(p22.3;q11.2)mat. The combined use of various methods has facilitated delineation of the fetal chromosomal aberration and prediction of the risk prediction for subsequent pregnancy.
