THE MARTIN-BELL SYNDROME: A PSYCHOLOGICAL, LOGOPAEDIC AND CYTOGENETIC STUDY OF TWO AFFECTED BROTHERS.

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:
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