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Study on the relationship between cytogenetics and phenotypic effect in Turner’s syndrome

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Summary

The cytogenetics and clinical stigmata in 5 cases of Turner’s syndrome were studied. Three of them were non-mosaic i(Xq) and two with partial monosome of a X chromosome short are (Xp21). whose DNA replication patterns of inactive X chromosome were analyzed by RBG technique. Results showed that differences between the replication patterns in cases of X chromosome deletion (Xp21) and normal females existed; that the behavior of abnormal X expressed nonrandom inactivation. It was suggested that the phenotype may be closely related with both X chromosome replication pattern and its inactivation behavior, which might be useful in genetic counselling.

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Authors and Affiliations

  1. Department of Paediatrics, Tongji Hospital, Tongji Medical University, 430030, Wuhan

    Hu Xiaofeng (Doctor in Charge), Zhu Baosheng, Lin Hanhua, Shu Dan, Tao Deding & Wang Mudi

  2. Laboratory of Cytogenetics, Yunnan Provincial People’s Hospital, 650000, Yunnan

    Zhu Baosheng

Authors
  1. Hu Xiaofeng
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  2. Zhu Baosheng
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  3. Lin Hanhua
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  4. Shu Dan
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  5. Tao Deding
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  6. Wang Mudi
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Xiaofeng, H., Baosheng, Z., Hanhua, L. et al. Study on the relationship between cytogenetics and phenotypic effect in Turner’s syndrome. Journal of Tongji Medical University 16, 245–248 (1996). https://doi.org/10.1007/BF02888117

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  • DOI: https://doi.org/10.1007/BF02888117

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