Genetic analysis of a child with mosaicism Turner syndrome.
10.3760/cma.j.cn511374-20220928-00651
- Author:
Jingzhen GAO
1
;
Jingjing ZHAO
;
Xiangyu ZHAO
;
Lin LI
Author Information
1. Department of Obstetrics and Gynecology, Linyi People's Hospital, Linyi, Shandong 276034, China. lilinxy1996@sina.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Child;
Female;
Turner Syndrome/genetics*;
Mosaicism;
In Situ Hybridization, Fluorescence;
Karyotyping;
Karyotype
- From:
Chinese Journal of Medical Genetics
2023;40(12):1566-1569
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic characteristics of a child with mosaicism Turner syndrome.
METHODS:A child who had presented at Linyi People's Hospital on May 19, 2022 due to short stature was selected as the study subject. The child was subjected to combined chromosomal karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA).
RESULTS:The child was found to have a 46,X,i(X)(q10)[94]/45,X[6] karyotype. The result of FISH was nucish(XYpter,XYqter)1[78]/(XYpter)1,(XYqter)3[122]. CMA result for her peripheral blood sample was arr[hg19]Xp22.33p11.1(168551_58526888)×1, and that for her oral mucosal cells was arr[hg19]Xp22.33p11.1(168551_58526888)1-2,Xq11.2q28(63000001_155233098)×2-3. By integrating the above findings, her molecular karyotype was determined as mos 46,X,i(X)(q10)[94]/45,X[6].arr[hg19]Xp22.33p11.1(168551_58526888)×1-2,Xq11.2q28(63000001_155233098)×2-3.nucish(XYpter)1,(XYqter)3[122]/(XYpter,XYqter)1[78], which has indicated mosaicism Turner syndrome.
CONCLUSION:The 46,X,i(X)(q10)/45,X mosaicism probably underlay the pathogenesis in this child.
