title: Deletions of chromosome 21 restricted to the leukemic cells of children with Down syndrome and leukemia.
abstract: Down syndrome (DS) is associated with an increased risk of developing hematological malignancies, but the basis for this predisposition is so far unknown. Using fluorescence in situ hybridization with a panel of locus-specific probes on normal and leukemic metaphases, we have found long-arm interstitial deletions of one of the chromosome 21s in the leukemic cells from five patients with DS and leukemia. This finding provides strong evidence for a gene or genes present on chromosome 21 having an important function in the development of leukemia in individuals with Down syndrome.
authors.affiliation: LRF Centre for Childhood Leukaemia, Department of Molecular Haematology, Institute of Child Health, London, UK.
authors.forename: H M
authors.initials: HM
authors.lastname: Kempski
authors.forename: J M
authors.initials: JM
authors.lastname: Chessells
authors.forename: B R
authors.initials: BR
authors.lastname: Reeves
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D007938:Leukemia / Q000150:complications* / Q000235:genetics*; D008297:Male