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Title: A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience
Authors: Schaap, C ×
Schrander-Stumpel, C T
Colla-Pijkels, E T
Van Driessche, J
Kusters, R
Fryns, Jean-Pierre #
Issue Date: 1995
Publisher: Edition médicine et hygiène
Series Title: Genetic Counseling vol:6 issue:3 pages:251-8
Abstract: 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 mental retardation occurred in 26 patients (22.4%): CNS-dysfunction due to pre-, peri- or postnatal causes were most likely in 18 patients (15.5%), while infections played a major role in 8 (6.9%). In 59 patients (50.9%) not etiological diagnosis could be made.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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