Article
A reinvestigation of thirty three fragile(X) families using probe StB12.3.
American journal of medical genetics - 15 Jul 1992
Macpherson J, Harvey J, Curtis G, Webb T, Heitz D, Rousseau F, Jacobs P
Abstract excerpt
We have reinvestigated 33 fragile X families using probe StB12.3. In 31 families the affected individual showed an insert while in 2 families no insert was detected. The insert fell into two size categories: small (less than 0.5 kb); and large (greater than 0.6 kb) accompanied by methylation of an EagI site. All individuals of either sex having a small insert were fra(X) negative and intellectually normal, while...
Topics
- DNA Probes
- Female
- Fragile X Syndrome
- Humans
- Male
- Mutation