[Mental deficiency and malformations in a child with 5/13 chromosome translocation].
An unusual case of mental retardation and physical malformations with chromosome abnormalities in a 9 year old boy is reported. Chromosomal analysis showed either breakage and delation from some gens to 5p and/or 13q; genic mutation or, perhaps, efect of position in re-adjusted chromosomic segments.
D002648:Child; D002869:Chromosome Aberrations; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic
Deficiencia mental e malformações em criança com translocações cromossomicas 5/13