Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities

J Med Genet. 1998 Jan;35(1):72-4. doi: 10.1136/jmg.35.1.72.

Abstract

Since its description in 1965, distal 10q trisomy has become recognised as a well defined, although rare syndrome, almost always the result of an unbalanced translocation. Typical features consist of psychomotor delay, a distinctive dysmorphic appearance, growth retardation, and, in some cases, cardiac, renal, and ocular abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Bronchi / abnormalities
  • Chromosomes, Human, Pair 10 / genetics*
  • Chromosomes, Human, Pair 18 / genetics
  • Dermoid Cyst
  • Fetal Growth Retardation
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Pulmonary Valve Stenosis
  • Pulmonary Veins / abnormalities
  • Radiography
  • Syndrome
  • Translocation, Genetic
  • Trisomy / genetics*