Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation

Am J Med Genet. 1997 Jun 13;70(3):324-7.


We report on the clinical and cytogenetic findings in a 9-year-old boy with a de novo deletion of 2q, shown by molecular analysis to have arisen from the paternal chromosome. Examination of microsatellite markers indicated deletion of bands 2q24.3 and 2q31. Clinical findings included craniosynostosis, bilateral ocular colobomata, and limb abnormalities, the latter being an emerging association with deletion of this region of 2q.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Coloboma / genetics*
  • Craniosynostoses / genetics*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Limb Deformities, Congenital*
  • Male