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目的了解Turner综合征患儿标记染色体的来源,以指导遗传咨询及治疗。方法在染色体核型分析的基础上,对32例Turner综合征患者进行回顾性分析。对3例含有标记染色体的患儿进一步用荧光原位杂交技术研究标记染色体的来源。结果3例含有标记染色体的Turner综合征患儿中,确定1例患儿的标记染色体来源于Y染色体,含有性别决定基因;1例来源于X染色体;另外1例未能确定其来源,该标记染色体可能来源于性染色体的其他片段或其他端着丝粒染色体。结论Turner综合征患者的标记染色体大多来源于性染色体(X染色体、Y染色体),也可能来源于其他端着丝粒染色体。有必要同时应用X染色体和Y染色体特异性探针对Turner综合征患者进行标记染色体的荧光原位杂交分析,以明确标记染色体的来源。
Objective To understand the origin of chromosome markers in children with Turner syndrome to guide genetic counseling and treatment. Methods Based on chromosomal karyotype analysis, 32 patients with Turner’s syndrome were retrospectively analyzed. The origin of the labeled chromosomes was further studied by fluorescence in situ hybridization in 3 cases of children with marker chromosomes. Results In 3 children with Turner syndrome with marker chromosomes, one marker of chromosome was identified from Y chromosome with sex-determining genes, one from X chromosome, and the other one was unable to identify its origin. The marker Chromosomes may originate from other segments of sex chromosomes or other telocentric chromosomes. Conclusion Most Turin syndrome marker chromosomes originate from sex chromosomes (X chromosome, Y chromosome) and may also originate from other telocentric chromosomes. It is necessary to apply X-chromosome and Y-chromosome-specific probes to fluorescently labeled chromosomes in patients with Turner’s syndrome by fluorescence in situ hybridization to clearly identify the origin of the chromosomes.