A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure

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 sec...

Full description

Saved in:
Bibliographic Details
Published in:Human reproduction (Oxford) 1998-11, Vol.13 (11), p.3039-3041
Main Authors: Davison, R M, Quilter, C R, Webb, J, Murray, A, Fisher, A M, Valentine, A, Serhal, P, Conway, G S
Format: Article
Language:English
Subjects:
Adult
Amenorrhea - genetics
Biological and medical sciences
Female
Female genital diseases
Gene Deletion
Genetic Markers
Gynecology. Andrology. Obstetrics
Humans
Karyotyping
Male
Medical sciences
Non tumoral diseases
Pedigree
Primary Ovarian Insufficiency - genetics
Sex Chromosome Aberrations - genetics
X Chromosome
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/13.11.3039