Article
A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1995
Schaap C, Schrander-Stumpel C T, Colla-Pijkels E T, Van Driessche J, Kusters R, Fryns J P
Abstract excerpt
In this paper we report the results of a genetic-diagnostic survey of 116 institutionalized male patients who were moderately to severely retarded. In 31 patients (26.7%) a constitutional cause of their mental impairment was found: chromosomal abnormalities in 11 patients (9.5%), Mendelian disorders in 16 (13.8%), of which 8 fragile X patients (6.9%), and a MCA/MR syndrome in 4 patients (3.4%). Acquired forms of...
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