2010Zhongguo fuyou baojianRequires access

Clinical manifestations and karyotype analysis of 58 cases with Turner syndrome in Fuzhou

Hui Xue

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Abstract

Objective:To explore the relationship between different karyotypes and clinical characteristics in cases with Turner syndrome.Methods:Peripheral blood lymphocyte culture technique, routine chromosome examination, G banding and C banding staining technique were used to analyze the relationship between karyotypes and clinical phenotypes in 58 cases with Turner syndrome retrospectively.Results:The clinical manifestations of cases with Turner syndrome were various, the karyotypes were complicated; the main karyotypes included X haplotype, mosaic type, abnormal structure of X chromosome, containing Y chromosome.Conclusion:Abnormal number and structure of X chromosome are main causes of Turner syndrome, the clinical manifestations depend on the degree of karyotypic abnormality and proportion between abnormal karyotype cell lines and normal karyotype cell lines; chromosome examination may provide important basis for clinical diagnosis.

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Objective:To explore the relationship between different karyotypes and clinical characteristics in cases with Turner syndrome.Methods:Peripheral blood lymphocyte culture technique, routine chromosome examination, G banding and C banding staining technique were used to analyze the relationship between karyotypes and clinical phenotypes in 58 cases with Turner syndrome retrospectively.Results:The clinical manifestations of cases with Turner syndrome were various, the karyotypes were complicated; the main karyotypes included X haplotype, mosaic type, abnormal structure of X chromosome, containing Y chromosome.Conclusion:Abnormal number and structure of X chromosome are main causes of Turner syndrome, the clinical manifestations depend on the degree of karyotypic abnormality and proportion between abnormal karyotype cell lines and normal karyotype cell lines; chromosome examination may provide important basis for clinical diagnosis.

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Available abstract

Objective:To explore the relationship between different karyotypes and clinical characteristics in cases with Turner syndrome.Methods:Peripheral blood lymphocyte culture technique, routine chromosome examination, G banding and C banding staining technique were used to analyze the relationship between karyotypes and clinical phenotypes in 58 cases with Turner syndrome retrospectively.Results:The clinical manifestations of cases with Turner syndrome were various, the karyotypes were complicated; the main karyotypes included X haplotype, mosaic type, abnormal structure of X chromosome, containing Y chromosome.Conclusion:Abnormal number and structure of X chromosome are main causes of Turner syndrome, the clinical manifestations depend on the degree of karyotypic abnormality and proportion between abnormal karyotype cell lines and normal karyotype cell lines; chromosome examination may provide important basis for clinical diagnosis.

Key concepts: Karyotype, Turner syndrome, Chromosome, Medicine, Abnormality, G banding, Pathology, Genetics

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