Prenatal diagnosis of a rare case of complete ring chromosome 15
10.3760/cma.j.cn113903-20230913-00198
- VernacularTitle:产前诊断15号完整环状染色体1例
- Author:
Hongrui CHEN
1
;
Pengwei JING
;
Songling YANG
;
Ling LEI
;
Xueqi LI
Author Information
1. 重庆医科大学附属妇女儿童医院生殖医学中心，重庆 400013
- Keywords:
Chromosomes, human, pair 15;
Ring chromosomes;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2024;27(1):74-77
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a prenatally diagnosed case of complete ring chromosome 15. A 38-year-old woman who conceived by in vitro fertilization and frozen embryo transfer underwent amniocentesis for prenatal diagnosis at 18 +5 weeks of gestation due to advanced maternal age. The result of G-banding karyotyping was mos 46,XX,r(15)[88]/45,X,-15[11]/46,XX,r(15;15)[1]. No numerical abnormalities of chromosomes or definite pathogenic copy number variations (CNVs) were detected by chromosomal microarray analysis. Amniocentesis was performed again at 31 +6 weeks of gestation. The result of genome copy number variation sequencing indicated no pathogenic CNV and fluorescence in situ hybridization on cultured amniocytes revealed nuc ish(15q)×1[15]/(15q)×3[5]/(15q)×2[80]. Based on all the prenatal diagnosis results, it was suggested that the fetus carried a complete ring chromosome 15. As the peripheral blood chromosomes of the couple were normal and no obvious abnormalities were detected by the prenatal ultrasound either in our hospital or another hospital, the pregnant woman decided to continue the pregnancy after genetic counseling and delivered a baby girl at 41 weeks of gestation. The girl showed no physical abnormalities during a seven-month follow-up.
