嵌合型Turner综合征患儿1例的遗传学分析

Genetic analysis of a child with mosaicism Turner syndrome

目的探讨1例嵌合型Turner综合征患儿的遗传学特点。方法选取2022年5月19日于临沂市人民医院遗传咨询门诊因"身材矮小"就诊的1例患儿为研究对象。联合应用染色体核型分析、荧光原位杂交(FISH)技术、染色体微阵列分析(CMA)技术对其进行遗传学检测。结果患儿核型分析结果为46,X,i(X)(q10)[94]/45,X[6],FISH结果为nucish(XYpter,XYqter)×1[78]/(XYpter)×1,(XYqter)×3[122],外周血细胞CMA结果为arr[hg19]Xp22.33p11.1(168551_58526888)×1,口腔黏膜细胞CMA结果为arr[hg19]Xp22.33p11.1(168551_58526888)×1-2,Xq11.2q28(63000001_155233098)×2-3。综合各种检测技术,确定其分子细胞核型结果为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],为嵌合型Turner综合征患儿。结论46,X,i(X)(q10)/45,X嵌合是患儿的致病原因。

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.