Duplication (20p) in association with thyroid carcinoma

Am J Med Genet. 1993 Jan 1;45(1):14-6. doi: 10.1002/ajmg.1320450106.


We report on a girl with short stature, mental retardation, mutism, "coarse" facial appearance, and papillary-follicular thyroid carcinoma. She had dup(20p) derived from a paternal balanced translocation [(12p;20p)]. We speculate that the carcinoma in our patient may be related to the deletion of material from 12p resulting in absence of genetic material normally required for the suppression of thyroid tumorigenesis.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / genetics*
  • Adolescent
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 20*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Multigene Family
  • Thyroid Neoplasms / genetics*
  • Translocation, Genetic