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目的 通过两家系中 2例典型的Waardenburg综合征 (WS)病例 ,分析其细胞遗传学改变 ,探讨该病在中国家系中的遗传异质性。方法 应用问卷调查方法绘制系谱图分析其遗传方式 ,采集家系部分成员的外周静脉血进行染色体核型分析。结果 在第一家系发现先证者及其父亲、祖父存在第 9号染色单体臂间倒位现象 ,而第二家系的染色体核型未见异常。结论 该综合征在中国家系中表现出明显的遗传异质性 ,尤其是在其中的一个家系中发现的染色体核型新的异常 ,提示在这个家系中可能存在新的致病基因
Objective To analyze the cytogenetic changes in two typical cases of Waardenburg syndrome (WS) from two families and to explore the genetic heterogeneity of the disease in Chinese pedigrees. Methods A pedigree was drawn by means of questionnaire survey to analyze the genetic patterns. Chromosomal karyotype analysis was performed on peripheral venous blood of some family members. Results in the first family found probands and their fathers and grandfathers, there is No. 9 chromatid inversions between arms, while the second line of the chromosome karyotype no exception. Conclusion The syndrome shows obvious genetic heterogeneity in Chinese pedigrees, especially the new abnormality of chromosome karyotype found in one of the pedigrees, suggesting that there may be new virulence genes in this pedigree