CAJ | 학술논문

目的探讨47,XYY/47,XY,+mar嵌合型超雄综合征患儿额外小标记染色体的形态和来源.方法在传统G显带染色体核型分析的基础上,进一步应用双色荧光原位杂交技术分析21例染色体核型为47,XYY/47,XY,+mar嵌合型超雄综合征患儿额外小标记染色体的形态和来源.结果 21例患儿的额外小标记染色体中,18例来源于Y染色体,3例来源于常染色体.来源于Y染色体的额外小标记染色体则均以带有着丝粒的染色体小片段形式存在;来源于常染色体的额外小标记染色体则均以带有着丝粒的染色体环状形态存在.结论 47,XYY/47,XY,+mar嵌合型超雄综合征患儿的额外小标记染色体多数来源于性染色体,少数来源于常染色体.这些额外小标记染色体主要以环状、带有着丝粒的染色体小片段状的形式存在.对于47,XYY/47,XY,+mar嵌合型超雄综合征患儿,应进一步明确其分子细胞遗传学特征,以指导遗传咨询、产前诊断和确定治疗方案.
목적 탐토47,XYY/47,XY,+mar감합형초웅종합정환인액외소표기염색체적형태화래원.방법 재전통G현대염색체핵형분석적기출상,진일보응용쌍색형광원위잡교기술분석21례염색체핵형위47,XYY/47,XY,+mar감합형초웅종합정환인액외소표기염색체적형태화래원.결과 21례환인적액외소표기염색체중,18례래원우Y염색체,3례래원우상염색체.래원우Y염색체적액외소표기염색체칙균이대유착사립적염색체소편단형식존재;래원우상염색체적액외소표기염색체칙균이대유착사립적염색체배상형태존재.결론 47,XYY/47,XY,+mar감합형초웅종합정환인적액외소표기염색체다수래원우성염색체,소수래원우상염색체.저사액외소표기염색체주요이배상、대유착사립적염색체소편단상적형식존재.대우47,XYY/47,XY,+mar감합형초웅종합정환인,응진일보명학기분자세포유전학특정,이지도유전자순、산전진단화학정치료방안.
Objective To explore the source and morphology of supernumerary markers from patients with 47,XYY/47,XY,+ mar and supermale syndrome.Methods Conventional GTG banded karyotyping and dual-color fluorescence in situ hybridization (FISH) were performed on 21 such patients.Results Among these cases,18 had their small supernumerary marker derived from the Y chromosome.Three were derived from autosomal chromosomes.Those derived from Y chromosome were small fragments with centromeres,while those derived from autosomes were in the ring form.Conclusion In children with supermale syndrome and 47,XYY/47,XY,+mar,the supernumerary marker chromosomes primarily derive from sex chromosomes.These small chromosomes mainly have the forms of small segments with centromeres or rings.For such children,molecular cytogenetic analysis can facilitate genetic counseling and prenatal diagnosis.