title: Complex chromosomal rearrangement in a mentally retarded boy without gross dysmorphic stigmata.
abstract: A boy with severe mental retardation and complex, apparently balanced chromosomal rearrangement (CCR) of autosomes 1, 3 and 5 is described. This complex chromosomal rearrangement involved three translocations and one insertion; five breakpoints were found, at 1p31, 3p22, 3p26, 5p14 and 5q23.
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D002905:Chromosomes, Human, 4-5; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic