Male pseudohermaphroditism, partial androgen receptors defect, 11p13 deletion: indication of gene localization

Am J Med Genet. 1986 Aug;24(4):679-84. doi: 10.1002/ajmg.1320240412.

Abstract

A partial androgen receptor defect was found in a boy with male pseudohermaphroditism and an 11p13 deletion. We hypothesize that a gene responsible for the function or structure of androgen receptors might be localized in the 11p13 band or in close proximity to it.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, 6-12 and X / ultrastructure*
  • Genitalia, Male / abnormalities*
  • Humans
  • Infant, Newborn
  • Kidney Neoplasms / complications
  • Male
  • Receptors, Androgen / deficiency*
  • Receptors, Androgen / genetics
  • Testosterone / blood
  • Wilms Tumor / complications

Substances

  • Receptors, Androgen
  • Testosterone