Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

Prenat Diagn. 2004 Oct;24(10):828-32. doi: 10.1002/pd.997.


We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniotic Fluid / cytology
  • Anophthalmos / diagnosis*
  • Anophthalmos / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 3 / genetics*
  • Cytogenetic Analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • HMGB Proteins
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Nuclear Proteins / genetics*
  • Pregnancy
  • Prenatal Diagnosis*
  • SOXB1 Transcription Factors
  • Transcription Factors


  • DNA-Binding Proteins
  • HMGB Proteins
  • Nuclear Proteins
  • SOX2 protein, human
  • SOXB1 Transcription Factors
  • Transcription Factors