FRAXA premutation associated with premature ovarian failure
- 9 August 1996
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 64 (2) , 373-375
- https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<373::aid-ajmg28>3.0.co;2-b
Abstract
A family is described in which six females in three generations experienced premature ovarian failure (POF). In three of them a FRAXA premutation was documented and the carrier status of a fourth female could be inferred, because her son had the fragile X syndrome. These findings provide further evidence for a nonrandom association between POF and the FRAXA premutation.Keywords
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