A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2

Am J Med Genet. 1989 Mar;32(3):359-63. doi: 10.1002/ajmg.1320320318.


We report an infant with del(2)(q31q33). His phenotype is compared with those of the 7 children reported previously with the apparently identical deletion. Nine cases of deletions involving other segments of chromosome 2q are reviewed. Common manifestations of the 2 groups include small size at birth, growth and developmental retardation, cardiovascular malformation, microcephaly, and cleft palate.

Publication types

  • Case Reports
  • Comparative Study
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Phenotype