Coffin-Lowry’s Syndrome

Czech version

Authors: E. Seemanová
Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, FN v Motole, Praha, vedoucí MUDr. M. Havlovicová
Published in: Čes-slov Pediat 2002; (10): 572-574.
Category:

Overview

Asylums give a care tomany individuals with miscellaneous defects without a clear etiology. During a screeningstudy for detection of fragile X syndrome 20 years ago in an asylum, we diagnosed clinically Coffin-Lowry’ssyndrome in aman and now we were able to estime a genetic prognosis for reproduction of his niece. Psychologicaland ethical problems of investigation of persons in asylums are emphasized.

Key words:
mental retardation, X-linked inheritance, mutation in RSK2 gene in region Xp22.2, geneticprognosis of reproduction in relatives, psychological and ethical problems of investigation of persons living inasylums without contact with their own families

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