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2011•Chinese Journal of Birth Health & HeredityRequires access

Cytogenetic diagnosis study of 51 cases of Turner Syndrome

Guo Jing-zhe

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Abstract

Objective:To Explore the association between various chromosome karyotypes of Turner Syndrome and their clinical characteristics.Methods:The chromosomal karyotypes were examined in patients by periphery blood lymphocyte culture and G banding.Results:Chromosomal karyotype of 51 cases Turner syndrome cases were 45,XO(19 cases,37.56%),45,XO/46,XX(9 cases,17.65%),46,Xi(Xq)(8 cases,15.69%),45,XO/46,Xi(Xq)(5 cases,9.8%),47,XXX(3cases,5.88%),45,XO/46,X + mar(2 cases,3.92%),45,XO/46,XY(2 cases,3.92%),45,XO/45,i(Xq)(2 cases,3.92%),46,X,del(X)(qter-q11:)(1 case,1.96%).Conclusion:Structural aberrations and number abnormalities were the major abnormal karyotypes in patients of Turner syndrome,which were the important factor for incidence of amenorrhea,gonad dysplastic,mental retardation and so on.Appropriate techniques should be used to screen fetal chromosomes during gestation weeks in high-risk pregnant women.

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Objective:To Explore the association between various chromosome karyotypes of Turner Syndrome and their clinical characteristics.Methods:The chromosomal karyotypes were examined in patients by periphery blood lymphocyte culture and G banding.Results:Chromosomal karyotype of 51 cases Turner syndrome cases were 45,XO(19 cases,37.56%),45,XO/46,XX(9 cases,17.65%),46,Xi(Xq)(8 cases,15.69%),45,XO/46,Xi(Xq)(5 cases,9.8%),47,XXX(3cases,5.88%),45,XO/46,X + mar(2 cases,3.92%),45,XO/46,XY(2 cases,3.92%),45,XO/45,i(Xq)(2 cases,3.92%),46,X,del(X)(qter-q11:)(1 case,1.96%).Conclusion:Structural aberrations and number abnormalities were the major abnormal karyotypes in patients of Turner syndrome,which were the important factor for incidence of amenorrhea,gonad dysplastic,mental retardation and so on.Appropriate techniques should be used to screen fetal chromosomes during gestation weeks in high-risk pregnant women.

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Available abstract

Objective:To Explore the association between various chromosome karyotypes of Turner Syndrome and their clinical characteristics.Methods:The chromosomal karyotypes were examined in patients by periphery blood lymphocyte culture and G banding.Results:Chromosomal karyotype of 51 cases Turner syndrome cases were 45,XO(19 cases,37.56%),45,XO/46,XX(9 cases,17.65%),46,Xi(Xq)(8 cases,15.69%),45,XO/46,Xi(Xq)(5 cases,9.8%),47,XXX(3cases,5.88%),45,XO/46,X + mar(2 cases,3.92%),45,XO/46,XY(2 cases,3.92%),45,XO/45,i(Xq)(2 cases,3.92%),46,X,del(X)(qter-q11:)(1 case,1.96%).Conclusion:Structural aberrations and number abnormalities were the major abnormal karyotypes in patients of Turner syndrome,which were the important factor for incidence of amenorrhea,gonad dysplastic,mental retardation and so on.Appropriate techniques should be used to screen fetal chromosomes during gestation weeks in high-risk pregnant women.

Key concepts: Karyotype, Turner syndrome, X chromosome, Gonad, Gynecology, Turner's syndrome, Y chromosome, Incidence (geometry)

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