Human Reproduction, Vol 13, 3039-3041, Copyright © 1998 by Oxford University Press
RM Davison, CR Quilter, J Webb, A Murray, AM Fisher, A Valentine, P Serhal and GS Conway
The association between X chromosome deletions and premature ovarian
failure is well established. Previous anecdotal reports however, have not
documented the prevalence of X deletions in women with premature ovarian
failure. We therefore performed cytogenetic analyses on 79 women with
primary or secondary amenorrhoea to assess the utility of screening for a
genetic marker for familial premature ovarian failure. A normal karyotype
was found in 77 women. One woman with primary amenorrhoea had an XY
karyotype and a woman with secondary amenorrhoea had a deletion at Xq 26.1.
This second case had a family history of premature ovarian failure, and her
mother who underwent premature ovarian failure at 28 years shared this
deletion. The early diagnosis of familial X deletions causing premature
ovarian failure allowed for the prediction of impending menopause and the
implementation of manoeuvres to advance conception. Although cytogenetic
aberrations are rare in secondary amenorrhoea, the ability to predict
premature ovarian failure can be vital.
ARTICLES
A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure
Department of Medicine, University College London, School of Medicine, UK.
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