title: Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature.
abstract: A mentally retarded male was found to be homozygous for a paracentric inversion of the long arm of chromosome 12(inv(12)(q21.1q23.2]. His parents, who are first cousins, and his phenotypically normal younger brother are inversion heterozygotes. Homozygous structural rearrangements are discussed and cases of paracentric inversions, including a further nine previously unpublished, are reviewed.
mesh_terms: D000293:Adolescent; D007446:Chromosome Inversion; D002881:Chromosomes, Human, Pair 12; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree