Article
Expression of the fragile-X in the "premutated"/"non-imprinted" state.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1992
Bilas R, Wilhelm D, Schwinger E, Chudley A E, Fryns J P, Howard-Peebles P N, Schinzel A, Van Roy B, Webb T
Abstract excerpt
Data about the expression of the fragile site at Xq27.3 from 74 daughters of normal transmitting males (NTMs) were collected from 7 different genetic centers. The majority (85.1%) of these obligate female carriers did not show any cytogenetic expression of fra-X. The remaining 14.9% of these females had frequencies below 3%. In cases with a frequency below 3% of fra-X, a "premutated"/"non imprinted" state of a...
Topics
- Female
- Fragile X Syndrome
- Gene Frequency
- Genetic Carrier Screening
- Humans
- Male
- Models, Genetic
- Mutation
- Phenotype
- Polymorphism, Restriction Fragment Length