[Autosomal anomalies in a specially selected group of children with mental retardation without signs of Down's syndrome].
Pathogenetic examinations of 96 mentally retarded children with multiple somatic anomalies and developmental defects (but without Down's disease) were carried out. Changes of the caryotype were discovered in 36 children (37.5%). In 21 children (22.0%) there were true autosomal aberrations 1/4 of which were tri- and monosomies, mainly in the form of mosaicism, and 3/4 were non-balanced structural reconstructions of the autosomes. In about 1/3 of the cases the structural anomalies were inherited by the children from their phenotypically healthy parents who had balanced translocations or inversions. In 15 children (15.6%) chromosomal variations were discovered. No differences between the clinical manifestations of the mental retardation in children with true autosomal aberrations and chromosomal variations were noted.
D000015:Abnormalities, Multiple / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D009154:Mutation; D014178:Translocation, Genetic; D014314:Trisomy
Anomalii autsom v spetsial'no otobrannoĭ gruppe deteĭ s oligofrenieĭ bez vneshnikh priznakov bolezni Dauna.