Summary:
Asylums give a care tomany individuals with miscellaneous defects without a clear etiology. During a screening
study for detection of fragile X syndrome 20 years ago in an asylum, we diagnosed clinically Coffin-Lowry’s
syndrome in aman and now we were able to estime a genetic prognosis for reproduction of his niece. Psychological
and 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, genetic
prognosis of reproduction in relatives, psychological and ethical problems of investigation of persons living in
asylums without contact with their own families
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