Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2)

Am J Med Genet. 1999 Nov 26;87(3):201-2. doi: 10.1002/(sici)1096-8628(19991126)87:3<201::aid-ajmg1>;2-h.


Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form, it is usually considered an autosomal recessive trait. However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11.2) in a baby with isolated anophthalmos. Both Chitayat et al. [1996] and Alvarez Arratia et al. [1984] have reported on cases of terminal deletion of the long arm of chromosome 3. In each case the child had multiple anomalies including microphthalmia or anophthalmia. Because our patient appears to have no other anomalies, this break point may indicate that a genetic locus for eye formation exists at chromosome site 3q27. Published 1999 Wiley-Liss, Inc.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anophthalmos / embryology
  • Anophthalmos / genetics*
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 11 / ultrastructure
  • Chromosomes, Human, Pair 3 / genetics*
  • Chromosomes, Human, Pair 3 / ultrastructure
  • Eye / embryology
  • Female
  • Humans
  • Infant, Newborn
  • Morphogenesis / genetics
  • Translocation, Genetic*