摘要目的 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.

abstractsObjective 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.