Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature

Am J Med Genet. 1988 Aug;30(4):929-38. doi: 10.1002/ajmg.1320300409.


Chromosome analysis with high-resolution banding showed a small de novo interstitial deletion of chromosome 2(p21----p22.2) in an infant with holoprosencephaly. This is the first such observation. There is a well-known association with abnormalities of chromosome 13 (most commonly trisomy 13, but also dup(13q) and del(13q) and chromosome 18 (most often del(18p), but also trisomy 18). Review of the literature also showed duplications of 3p and deletions of 7q to be causes of the holoprosencephaly defect.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Female
  • Humans
  • Infant, Newborn
  • Orbit / abnormalities*