Article
Clinical management issues in males with sex chromosomal mosaicism and discordant phenotype/sex chromosomal patterns.
Clinical pediatrics - 1 Jan 1991
Van Dyke D C, Hanson J W, Moore J W, Patil S R, Hawtrey C E, Hansen J R
Abstract excerpt
The recent availability of Y DNA probes has made it possible to identify two forms of 46,XX male syndrome: Y DNA positive and Y DNA negative. The Y DNA positive male results from a X;Y translocation with a low recurrence risk; the Y DNA negative males are due to a mutation with a high recurrence risk. 46,XX males and mosaic forms are phenotypically indistinguishable. A review of the case histories for 11...
Topics
- Adolescent
- Adult
- Aged
- Child, Preschool
- DNA
- Humans
- Infant
- Infant, Newborn
- Male
- Mosaicism
- Mutation
- Phenotype