Genetic analysis for a female carrying idic(Y)(p11.32) with Disorders of sex development
10.3760/cma.j.cn511374-20230706-00413
- VernacularTitle:Idic (Y)(p11.32)性发育异常患者1例的遗传学分析
- Author:
Yuanxia ZHANG
1
;
Zhenzhen XU
;
Xiangyu ZHAO
;
Lin LI
Author Information
1. 临沂市人民医院妇产科，临沂 276003
- Keywords:
Dual centromere Y chromosome;
Disorders of sex development;
Turner syndrome;
Mosaicism
- From:
Chinese Journal of Medical Genetics
2024;41(5):626-631
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a patient with Disorders of sex development (DSD).Methods:A female patient who had presented at the Linyi People′s Hospital due to primary amenorrhea on April 6, 2022 was selected as the study subject. Conventional chromosomal karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), fluorescence quantitative PCR and Sanger sequencing were carried out for the patient. Results:The patient, a 14-year-old female, had featured short statue, multiple nevi, and primary amenorrhea. She was found to have a karyotype of 46, X, idic(Y)(p11.3)[59]/45, X[39]/47, X, idic(Y)(p11.3)×2[2]. The result of FISH assay was 46, X, der(Y).ish idic(Y)(p11.3)( SRY+ )[59]/45, X[39]/47, X, der(Y)×2.ish idic(Y)(p11.3)( SRY+ )[2]. That of CMA was arr[GRCh37](X)×1, (Y)×0-1, arr[GRCh37]Yp11.32(118552_472090)×1. The patient had no deletion in the AZF region of Y chromosome, and was negative for variant of SRY gene. Combining the above results, her molecular karyotype was determined as mos 46, X, idic(Y)(p11.32)[59]/45, X[39]/47, X, idic(Y)(p11.32)×2[2].ish 46, X, idic(Y)(p11.32)( DXZ1+, DYZ1+ +, DYZ3+ +, SRY+ )[59]/45, X( DXZ1+, DYZ1-, DYZ3-, SRY-)[39]/47, X, der(Y)×2.ish idic(Y)(p11.32)( DXZ1+, DYZ1+ +, DYZ3+ +, SRY+ )[2].arr[GRCh37](X)×1, (Y)×0-1, arr[GRCh37]Yp11.32(118552_472090)×1. The patient was diagnosed with mosaicism DSD with idic(Y)(p11.32). Conclusion:The abnormal mosaicism karyotype probably underlay the DSD in this patient.
