A case of Turner syndrome with double pseudo-isodicentric X chromosome and mosaic karyotype diagnosed prenatally and a literature review
10.3760/cma.j.cn511374-20250423-00244
- VernacularTitle:产前诊断包含双等臂假双着丝粒X染色体的嵌合型Turner综合征1例并文献复习
- Author:
Famei XU
1
;
Yingxin ZHANG
;
Wanxiao HAO
;
Xiaoming YU
;
Yifang JIA
Author Information
1. 淄博市中心医院病理科，淄博 255036
- Publication Type:Journal Article
- Keywords:
Turner syndrome;
G banding analysis;
Chromosomal microarray analysis;
Double pseudo-isodicentric X;
Mosaicism
- From:
Chinese Journal of Medical Genetics
2025;42(6):756-761
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the mechanism for the occurrence and phenotypic characteristics of Turner syndrome based on a prenatally diagnosed case of a mosaic karyotype containing double pseudo-isodicentric X chromosome and a review of relevant literature.Methods:A fetus who was diagnosed with increased risk of trisomy 21 at the Provincial Hospital Affiliated to Shandong First Medical University in August 2023 was selected as the study subject. Clinical data of the fetus was collected. Following amniocentesis, chromosomal G-banding karyotype analysis and chromosomal microarray analysis (CMA) were carried out. This study has been approved by the Ethics Committee of the Hospital (Ethics No.: SWYX No. 2022-287).Results:The early-trimester screening suggested a high risk of trisomy 21(1/19), with free β-hCG of 116 ng/mL (MoM value 2.35), PAPP-A of 0.394 ng/mL (MoM value 0.12), and NT value of 1.3 mm, though no abnormality was found in the fetus at 19 weeks gestation. The karyotype of amniocyte was determined as 46, X, psu idic(X)(p11.21)[55]/45, X[27]/47, X, psu idic(X)(p11.21)×2[5]/46, XX[13]. CMA has yielded a result of arr[GRCh37] Xp22.33p11.21(168552_55585678)×1[0.67], Xp11.21q28(55703291_155233098)×3[0.5].Conclusion:Karyotypes of Turner syndrome are complex and diverse, and a rare 46, X, psu idic(X)(p11.21)[55]/45, X[27]/47, X, psu idic(X)(p11.21)×2[5]/46, XX[13] mosaic karyotype with double pseudo-isodicentric X chromosome has been identified. Literature review suggested that this karyotype may lead to phenotypic diversification and a risk of reduced sensitivity to hormone therapy.
