Chromosome abnormality in Kallmann syndrome

Am J Med Genet. 1990 Mar;35(3):306-9. doi: 10.1002/ajmg.1320350303.

Abstract

We report on an individual with Kallman syndrome (KS) and a balanced de novo translocation (7;12)(q22,q24). None of 6 full sibs, 3 half-sibs, or parents have KS or this chromosome translocation. This is the only known report of KS with a chromosome abnormality. This may represent a spurious association or genetic heterogeneity vis-a-vis the reported linkage of KS to the steroid sulphatase gene on the X chromosome. The pathophysiology and genetics of KS are discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone and Bones / abnormalities
  • Cells, Cultured
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 7*
  • Humans
  • Hypogonadism / genetics*
  • Karyotyping
  • Male
  • Olfaction Disorders / genetics*
  • Olfactory Nerve / abnormalities
  • Syndrome
  • Translocation, Genetic*