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一例45,XO/46,X,i(Xq)嵌合型Turner′s综合征及其细胞遗传学分析
引用本文:王佑举,朱燕祥,贾玉珩,李文彬.一例45,XO/46,X,i(Xq)嵌合型Turner′s综合征及其细胞遗传学分析[J].河北大学学报(自然科学版),1984(2).
作者姓名:王佑举  朱燕祥  贾玉珩  李文彬
作者单位:河北大学生物系 (王佑举,朱燕祥,贾玉珩),河北大学卫生所(李文彬)
摘    要:本文描述了一种少见的嵌合型Turner′s综合征。细胞遗传学检查证明:患者一个细胞系为45,XO,约占95%;另一个细胞系为46,X,i(Xq)约占5%。与典型Turner′s综合征相比较,分析了该患者染色体核型与表型的关系,讨论了Lyon关于两个X染色体之一随机失活的观点和异常核型产生的原因。


One Case on Turner's Syndrome With the Mosaic 45,XO/46,X,i(Xq) and Cytogenetics Analysis
Abstract:This paper describes a race mosaic Turner's syndrome. Cytogenetic test shows that one cell line of the patient is 45, XO,making up approximately 95% of the totality the other is 16 ,X, (xq),making up 5%. What is said in the paper also compares with starnlerd Turner's syndrome.The relationship between karyotype and phenotype of the chromosome has been analysed. The idea propased by Lyon that one of the two X chromosomes loses its acti -vity in a random way and the reasan tor production of uncommon karyotype have been disussed.
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