Duplication 12q mosaicism in two unrelated patients with a similar syndrome

Am J Med Genet. 1980;7(2):123-9. doi: 10.1002/ajmg.1320070206.


Two unrelated children with a similar syndrome were found to have mosaicism for a cell line containing one chromosome 12 with an additional faintly G-banding staining region that apparently represents a duplication of the distal portion of the long arm. The homology and the other chromosomes are normal, as are the parental chromosomes. The remarkable phenotypic similarity of the 2 patients and their resemblance to 2 previously reported patients with duplication of the same chromosome region suggests that duplication 12q24 results in a clinically identifiable malformation syndrome.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Mosaicism*
  • Phenotype
  • Syndrome
  • Trisomy*