TY - JOUR
T1 - Fragile X premutation is a significant risk factor for premature ovarian failure
T2 - The international collaborative POF in fragile X study - Preliminary data
AU - Allingham-Hawkins, Diane J.
AU - Babul-Hirji, Riyana
AU - Chitayat, David
AU - Holden, Jeanette J.A.
AU - Yang, Kathy T.
AU - Lee, C.
AU - Hudson, R.
AU - Gorwill, H.
AU - Nolin, Sarah L.
AU - Glicksman, Anne
AU - Jenkins, Edmund C.
AU - Brown, W. Ted
AU - Howard-Peebles, Patricia N.
AU - Becchi, Cindy
AU - Cummings, Emilie
AU - Fallon, Lee
AU - Seitz, Suzanne
AU - Black, Susan H.
AU - Vianna-Morgante, Angela M.
AU - Costa, Silvia S.
AU - Otto, Paulo A.
AU - Mingroni-Netto, Regina C.
AU - Murray, Anna
AU - Webb, J.
AU - MacSwinney, F.
AU - Dennis, N.
AU - Jacobs, Patricia A.
AU - Syrrou, Maria
AU - Georgiou, Ioannis
AU - Patsalis, Phillipos C.
AU - Giovannucci Uzielli, Maria L.
AU - Guarducci, S.
AU - Lapi, E.
AU - Cecconi, A.
AU - Ricci, U.
AU - Ricotti, G.
AU - Biondi, C.
AU - Scarselli, B.
AU - Vieri, F.
PY - 1999/4/2
Y1 - 1999/4/2
N2 - The preliminary results of an international collaborative study examining premature menopause in fragile X carriers are presented. A total of 760 women from fragile X families was surveyed about their fragile X carrier status and their menstrual and reproductive histories. Among the subjects, 395 carried a premutation, 128 carried a full mutation, and 237 were noncarriers. Sixty-three (16%) of the premutation carriers had experienced menopause prior to the age of 40 compared with none of the full mutation carriers and one (0.4%) of the controls. Based on these preliminary data, there is a significant association between fragile X premutation carrier status and premature menopause.
AB - The preliminary results of an international collaborative study examining premature menopause in fragile X carriers are presented. A total of 760 women from fragile X families was surveyed about their fragile X carrier status and their menstrual and reproductive histories. Among the subjects, 395 carried a premutation, 128 carried a full mutation, and 237 were noncarriers. Sixty-three (16%) of the premutation carriers had experienced menopause prior to the age of 40 compared with none of the full mutation carriers and one (0.4%) of the controls. Based on these preliminary data, there is a significant association between fragile X premutation carrier status and premature menopause.
KW - Fragile X premutation
KW - Fragile X syndrome
KW - Premature menopause
KW - Premature ovarian failure
UR - https://www.scopus.com/pages/publications/0033515496
U2 - 10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO;2-B
DO - 10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO;2-B
M3 - Article
C2 - 10208170
AN - SCOPUS:0033515496
SN - 0148-7299
VL - 83
SP - 322
EP - 325
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -