Article
Transmitting males and carrier females in fragile X--revisited.
American journal of medical genetics - 15 Jul 1994
Loesch D Z, Hay D A, Mulley J
Abstract excerpt
Fragile X "transmitting males" have customarily been defined as phenotypically normal hemizygotes, who show very few or no fragile sites, and who transmit the fragile X premutation to phenotypically normal daughters. However, an objective justification of this definition was lacking. The discover...
Topics
- Adolescent
- Adult
- Aged
- Chi-Square Distribution
- Child
- DNA
- Face
- Family Health
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Expression
- Genes
- Genotype
- Heterozygote
- Humans
- Likelihood Functions
- Male