Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3))

Am J Med Genet. 1992 Nov 15;44(5):551-4. doi: 10.1002/ajmg.1320440503.

Abstract

A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Blepharoptosis / genetics
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1*
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Male
  • Micrognathism / genetics