Ectro-amelia syndrome associated with an interstitial deletion of 7q

Am J Med Genet. 1990 Jan;35(1):95-9. doi: 10.1002/ajmg.1320350118.


We describe a premature male infant with an interstitial deletion of 7q [46,XY,del(7) (pter----q21.3::q31.3----qter]. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3----q31.3 region are reviewed with emphasis on limb anomalies.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7*
  • Ectromelia / diagnostic imaging
  • Ectromelia / genetics*
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Radiography