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2013•Chinese Journal of Birth Health & HeredityRequires access

Cytogenetic analysis of 16 case of Turner syndrome

HA Xiao-qi

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Abstract

Objective:To analyze the association between various chromosome karyotypes of Turner Syndrome and their clinic manifestation.Methods:G banding of peripheral blood lymphocytes were used to analyze chromosomes in the patients.Results:Among 16 Turner syndrome patients there were 6 case of mosaic 45,XO(37.50%);1 case of mosaic 46,X0/46,XX(6.25%);1 case of 46,Xi(Xq)(6.25%);4 case of 47,XXX(25.00%);3 case of 46,XY/45,X0(18.75%);1 case of 46,XX,del(Xq24)(6.25%).Conclusion:The primary reason of turner syndrome is the numerical anomalies and structural aberrations aberrations of X chromosome.Many kinds of organ dysfunctions,such as slow growth,gonadal dysgenesis,amenorrhea and mental retardation are caused by abnormal karyotype.

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Objective:To analyze the association between various chromosome karyotypes of Turner Syndrome and their clinic manifestation.Methods:G banding of peripheral blood lymphocytes were used to analyze chromosomes in the patients.Results:Among 16 Turner syndrome patients there were 6 case of mosaic 45,XO(37.50%);1 case of mosaic 46,X0/46,XX(6.25%);1 case of 46,Xi(Xq)(6.25%);4 case of 47,XXX(25.00%);3 case of 46,XY/45,X0(18.75%);1 case of 46,XX,del(Xq24)(6.25%).Conclusion:The primary reason of turner syndrome is the numerical anomalies and structural aberrations aberrations of X chromosome.Many kinds of organ dysfunctions,such as slow growth,gonadal dysgenesis,amenorrhea and mental retardation are caused by abnormal karyotype.

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Available abstract

Objective:To analyze the association between various chromosome karyotypes of Turner Syndrome and their clinic manifestation.Methods:G banding of peripheral blood lymphocytes were used to analyze chromosomes in the patients.Results:Among 16 Turner syndrome patients there were 6 case of mosaic 45,XO(37.50%);1 case of mosaic 46,X0/46,XX(6.25%);1 case of 46,Xi(Xq)(6.25%);4 case of 47,XXX(25.00%);3 case of 46,XY/45,X0(18.75%);1 case of 46,XX,del(Xq24)(6.25%).Conclusion:The primary reason of turner syndrome is the numerical anomalies and structural aberrations aberrations of X chromosome.Many kinds of organ dysfunctions,such as slow growth,gonadal dysgenesis,amenorrhea and mental retardation are caused by abnormal karyotype.

Key concepts: Turner syndrome, Karyotype, Primary amenorrhea, X chromosome, Chromosome, Gonadal dysgenesis, Turner's syndrome, Peripheral blood

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