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2011•Anhui Medical and Pharmaceutical JournalRequires access

Chromosome R-banding analysis of 57 cases of Turner syndrome

Wu Mei

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Abstract

Aim To study turner syndrome and its genetic relationship with chromosome abnormalities.Methods R banding of peripheral blood lymphocytes were used to analyze chromosomes in the patients.Results Among 57 Turner syndrome patients,there were 27 cases of 45,X(47.4%);2 cases of mosaic 45,X/46,XX(3.5%);12 cases of mosaic 45,X/46,X,i(X)(21.1%);11 cases of 46,X,i(X)(19.3%)and 4 cases of 45,X/46,XX,del(X)(peter-q11)(7.0%).Conclusion Abnormal X chromosome number and structure of distortion is the main reason leading to Turner syndrome,causing female infertility and varying degrees of mental retardation and other organ dysfunction.Good prenatal diagnosis should be used to promote prenatal and postnatal care.

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Aim To study turner syndrome and its genetic relationship with chromosome abnormalities.Methods R banding of peripheral blood lymphocytes were used to analyze chromosomes in the patients.Results Among 57 Turner syndrome patients,there were 27 cases of 45,X(47.4%);2 cases of mosaic 45,X/46,XX(3.5%);12 cases of mosaic 45,X/46,X,i(X)(21.1%);11 cases of 46,X,i(X)(19.3%)and 4 cases of 45,X/46,XX,del(X)(peter-q11)(7.0%).Conclusion Abnormal X chromosome number and structure of distortion is the main reason leading to Turner syndrome,causing female infertility and varying degrees of mental retardation and other organ dysfunction.Good prenatal diagnosis should be used to promote prenatal and postnatal care.

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Available abstract

Aim To study turner syndrome and its genetic relationship with chromosome abnormalities.Methods R banding of peripheral blood lymphocytes were used to analyze chromosomes in the patients.Results Among 57 Turner syndrome patients,there were 27 cases of 45,X(47.4%);2 cases of mosaic 45,X/46,XX(3.5%);12 cases of mosaic 45,X/46,X,i(X)(21.1%);11 cases of 46,X,i(X)(19.3%)and 4 cases of 45,X/46,XX,del(X)(peter-q11)(7.0%).Conclusion Abnormal X chromosome number and structure of distortion is the main reason leading to Turner syndrome,causing female infertility and varying degrees of mental retardation and other organ dysfunction.Good prenatal diagnosis should be used to promote prenatal and postnatal care.

Key concepts: Turner syndrome, X chromosome, Peripheral blood, Karyotype, Turner's syndrome, Infertility, Chromosome, Medicine

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