Genetic analysis of a rare case with Disorder of sex development due to structural rearrangement of Y chromosome.
10.3760/cma.j.cn511374-20210715-00598
- Author:
Manli MI
1
;
Junke XIA
;
Yaqin HOU
;
Peng DAI
;
Yanan WANG
;
Xiangdong KONG
Author Information
1. Department of Medical Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Care Hospital, Luoyang, Henan 471000, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Adolescent;
DNA Copy Number Variations;
In Situ Hybridization, Fluorescence;
Y Chromosome;
Sexual Development;
Mosaicism
- From:
Chinese Journal of Medical Genetics
2023;40(11):1430-1435
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a rare case with Disorder of sex development.
METHODS:Clinical data of the patient was collected. Chromosomal karyotyping, SRY gene testing, whole exome sequencing (WES), low-coverage massively parallel copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), and whole genome sequencing (WGS) were carried out.
RESULTS:The patient, a 14-year-old female, had manifested short stature and dysplasia of second sex characteristics. She was found to have a 46,XY karyotype and positive for the SRY gene. No pathogenic variant was found by WES, except a duplication at Yp11.32q12. The result of CNV-seq was 47,XYY. FISH has confirmed mosaicism for a dicentric Y chromosome. A 23.66 Mb duplication on Yp11.32q11.223 and a 5.16 Mb deletion on Yq11.223q11.23 were found by WGS. The breakpoint was mapped at chrY: 23656267. The patient's karyotype was ultimately determined as 46,X,psu idic(Y)(q11.223)/46,X,del(Y)(q11.223).
CONCLUSION:The combination of multiple methods has facilitated clarification of the genetic etiology in this patient, which has provided a reference for the clinical diagnosis and treatment.
