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Obstetrical and gynecological complications in fragile X carriers: A multicenter study

✍ Scribed by Schwartz, C. E. ;Dean, J. ;Howard-Peebles, P. N. ;Bugge, M. ;Mikkelsen, M. ;Tommerup, N. ;Hull, C. ;Hagerman, R. ;Holden, J. J. A. ;Stevenson, R. E.

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
332 KB
Volume
51
Category
Article
ISSN
0148-7299

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✦ Synopsis

W e have conducted a multicenter obstetrical and gynecological survey of women in fragile X families. Included in the study were 131 gene carriers (39 with a full mutation and 92 with a premutation) and 109 noncarriers. Analysis indicated that higher numbers of fragile X gene carriers reported having irregular menses and other gynecological complications. As a group they also experienced cessation of menses prior to age 40 years at a significantly higher rate. The data appear to indicate that the FMRl gene may play a role in the development and proliferation of OOgOnia.

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## Abstract A new tremor–ataxia syndrome, fragile X–associated tremor/ataxia syndrome (FXTAS), has been described among carriers of premutation expansions (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The prevalence of FMR1 premutation alleles has been reported to be 1 in