Prenatal detection of cyclopia associated with interstitial deletion of 2p

Am J Med Genet. 1989 Oct;34(2):268-70. doi: 10.1002/ajmg.1320340231.


We report on a case of synophthalmic cyclopia and alobar holoprosencephaly associated with an interstitial deletion of the short arm of chromosome 2: del(2)(p21p23). This is the second case with this phenotype in association with deletion in this region, and comparison with the infrequent other cases of 2p deletions suggests a causal relationship between band 2p21 and cyclopia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adult
  • Brain / abnormalities*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 18
  • Chromosomes, Human, Pair 2*
  • Facial Bones / abnormalities
  • Female
  • Fetal Death
  • Humans
  • Karyotyping
  • Male
  • Pregnancy
  • Prenatal Diagnosis
  • Syndrome
  • Trisomy