Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome

Am J Med Genet. 1992 Nov 1;44(4):434-6. doi: 10.1002/ajmg.1320440409.


We report on a 6-year-old boy with de novo 46,XY,del(3)(q12q23) and bilateral blepharophimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further "contiguous gene syndrome."

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Blepharophimosis / genetics*
  • Blepharophimosis / pathology
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 3*
  • Female
  • Humans
  • Male
  • Syndrome