Distal 12p deletion in a stillborn infant

Am J Med Genet. 1990 Jul;36(3):358-60. doi: 10.1002/ajmg.1320360324.

Abstract

A stillborn female with a "de novo" deletion of band 12p13 is described. Her main clinical manifestations are intrauterine growth retardation, unilateral cleft lip, protruding tongue, and small, low set, and posteriorly angulated ears. Comparison of this case with 4 previous reported patients with an isolated distal del(12p) fails to show significant common phenotypic characteristics.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 12*
  • Female
  • Fetal Death / genetics*
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Syndrome