Autor: |
Renier, W. O., Smeets, D. F. C. M., Scheres, J. M. J. C., Hustinx, T. W. J., Hulsmans, C. F. C., Ophey, C. P. M. O., Bomers, A. J. A. M., Gabreëls, F. J. M. |
Předmět: |
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Zdroj: |
Journal of Mental Deficiency Research; Mar1983, Vol. 27 Issue 1, p51-59, 9p |
Abstrakt: |
The article focuses on the Martin-Bell syndrome. Recently the authors had the opportunity to observe two brothers with Martin-Bell syndrome who had a different degree of mental retardation and verbal disabilities, and who also showed a remarkably different expression of the X-fragility. In this article they report and discuss their investigations. Chromosomes were studied in cultured peripheral lymphocytes from the two patients and their mother. The X-fragility can only be found if appropriate media are used, and A great difference between the two brothers in clinical, psychological, logopaedic and cytogenetic expression of the syndrome is found and discussed. |
Databáze: |
Supplemental Index |
Externí odkaz: |
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