title: Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.
abstract: A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002902:Chromosomes, Human, 16-18; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010375:Pedigree; D014314:Trisomy