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.
Institut für Humangenetik, Medizinische Universität zu Lübeck, Germany.
R
R
Bilas
D
D
Wilhelm
E
E
Schwinger
A E
AE
Chudley
J P
JP
Fryns
P N
PN
Howard-Peebles
A
A
Schinzel
B
B
Van Roy
T
T
Webb
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