title: Down's syndrome and deletion of short arms of a G chromosome.
abstract: A woman in a family in which a G group chromosome (No. 21) with deleted short arms (21p-) is present has passed this chromosome to an intellectually deficient son, a normal son, and a daughter with Down's syndrome. Another daughter is chromosomally and phenotypically normal. As in other reports that focus on a concurrence of Gp- chromosomes and Down's anomaly, the possibility is considered that this chromosomal variant may predispose to developmental abnormalities or to non-disjunction, or both.
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D010375:Pedigree