Article
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.
American journal of medical genetics - 3 Jul 1995
Parenti G, Rizzolo M G, Ghezzi M, Di Maio S, Sperandeo M P, Incerti B, Franco B, Ballabio A, Andria G
Abstract excerpt
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.
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- DNA Primers
- Exons
- Gene Deletion
- Genetic Linkage
- Humans
- Hypogonadism
- Kallmann Syndrome
- Male