Aortic stenosis of fetus caused by chimeric Y-chromosome isobaric double-adherent granules:A case report and literature review
10.13481/j.1671-587X.20240132
- VernacularTitle:嵌合型Y染色体等臂双着丝粒致胎儿主动脉狭窄1例报告及文献复习
- Author:
Yulu QUAN
1
,
2
;
Pingping ZHANG
;
Yan LUO
;
Jing HUO
;
Xiaoping YU
;
Yanmei SUN
;
Yali LI
Author Information
1. 河北北方学院研究生院,河北 张家口 075000
2. 河北省人民医院生殖遗传科,河北 石家庄 050051
- Keywords:
Fetus;
Congenital heart disease;
Aortic stenosis;
Prenatal diagnosis;
Chimeric Y-chromosome isobaric double-adherent granules
- From:
Journal of Jilin University(Medicine Edition)
2024;50(1):260-264
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To confirm the potential etiological factors of congenital aortic stenosis(AS)by genetic analysis on prenatal diagnostic results of the fetus with AS.Methods:Amniocentesis for chromosomal G-band karyotyping combinated with single nucleotide polymorphism array(SNP-array)analysis was conducted on the amniotic fluid collected from a 25-week pregnant woman diagnosed as"fetus AS";chromosome karyotyping was also performed on the peripheral blood of the fetal parents.Results:The fetal karyotype analysis showed a chimeric Y-chromosome isobaric double-adherent granules.The SNP-array analysis results revealed a 11.2 Mb duplication in the Yp11.31q11.21 region and a 14.8 Mb deletion in the Yq11.21q11.23 region.Both the parents presented a normal karyotype,suggesting it was a newfound mutation.After extensive genetic counseling,the pregnant woman and her family chose to terminate the pregnancy locally.Conclusion:The chromosomal karyotype of the chimeric Y-chromosome isobaric double-adherent granules may be a contributing factor to the AS phenotype in the male fetus.The combined use of chromosomal karyotyping and SNP-array analysis on the amniotic cells is instrumental in the early diagnosis of the disease.
