Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion

Clin Dysmorphol. 2000 Oct;9(4):235-9. doi: 10.1097/00019605-200009040-00001.

Abstract

An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2) deletion is presented. Glaucoma and ectrodactyly in association with a 7q deletion has not been previously reported. We recommend that early ophthalmological assessment is required in infants with such deletions.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7*
  • Glaucoma / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Syndactyly / genetics*