A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25)

J Med Genet. 1982 Feb;19(1):71-3. doi: 10.1136/jmg.19.1.71.

Abstract

A child with monosomy for the distal part of the short arm of chromosome 3 is presented. Altered features include prenatal onset growth deficiency, postaxial polydactyly, ptosis, ear anomalies, and a triangular facial appearance. In addition to generalised delay in psychomotor development, specific problems in visual attention were present. Comparison with the previously reported case suggests that the phenotype observed constitutes a clinically recognisable pattern of malformation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Deletion*
  • Chromosomes, Human, 1-3 / ultrastructure*
  • Growth Disorders / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Phenotype