Article
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.
American journal of human genetics - 1 Aug 1994
Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I
Abstract excerpt
We report the results of a 14-center collaborative study of genotype-phenotype correlations in 318 fragile X families; these families comprised 2,253 individuals, 1,344 of whom carried a fragile X mutation and 693 of whom had a typical full fragile X mutation. This study demonstrates that direct...
Topics
- Adolescent
- Chi-Square Distribution
- DNA Probes
- Dinucleoside Phosphates
- Female
- Fragile X Syndrome
- Gene Frequency
- Genetic Carrier Screening
- Genotype
- Humans
- Likelihood Functions
- Logistic Models
- Male
- Methylation