Expression of the fragile-X in the "premutated"/"non-imprinted" state
Bilas, R.; Wilhelm, D.; Schwinger, E.; Chudley, A.E.; Fryns, J.P.; Howard-Peebles, P.N.; Schinzel, A.; Van Roy, B.; Webb, T.
Genetic Counseling 3(4): 179-181
1992
ISSN/ISBN: 1015-8146 PMID: 1361753 Document Number: 388940
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.