Expression of the fragile-X in the "premutated"/"non-imprinted" state.
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 female carrier should be considered. The results of this collaborative study are in accordance with data from DNA studies taking the premutation model into account.
Bilas
R
R
Institut für Humangenetik, Medizinische Universität zu Lübeck, Germany.
Wilhelm
D
D
Schwinger
E
E
Chudley
A E
AE
Fryns
J P
JP
Howard-Peebles
P N
PN
Schinzel
A
A
Van Roy
B
B
Webb
T
T
D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics* / Q000517:prevention & control; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length