Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

Am J Med Genet. 1979;3(2):155-74. doi: 10.1002/ajmg.1320030207.


We studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, 16-18*
  • Chromosomes, Human, 6-12 and X
  • Face / abnormalities
  • Female
  • Growth Disorders / genetics
  • Humans
  • Immunoglobulins / analysis
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Syndrome
  • Translocation, Genetic


  • Immunoglobulins