Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene

Am J Med Genet. 1995 Jul 3;57(3):476-8. doi: 10.1002/ajmg.1320570323.

Abstract

We report on the clinical and molecular characterization of 3 sibs with X-linked ichthyosis and variable expression of Kallmann syndrome. One of the affected brothers had mild hyposmia and showed normal pubertal progression. However, we demonstrated the same partial deletion of the X-linked Kallmann gene, sparing the first exon in the mildly affected patient as well as in one of his severely affected brothers.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • DNA Primers
  • Exons
  • Gene Deletion*
  • Genetic Linkage
  • Humans
  • Hypogonadism / genetics*
  • Kallmann Syndrome / genetics*
  • Male
  • Molecular Sequence Data
  • Nuclear Family
  • Phenotype
  • Polymerase Chain Reaction
  • X Chromosome

Substances

  • DNA Primers