ArticleMolecular cytogenetics2010
X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation.
Article in Molecular cytogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Endocrine disorders in Rett syndrome: a systematic review of the literature.Frontiers in endocrinology · 2024Pooled it
- Novel Advances in Cell-Free Therapy for Premature Ovarian Failure (POF): A Comprehensive Review.Advanced pharmaceutical bulletin · 2024Review
- Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.Genes · 2024Observational
- Article
- Epigenetic regulation in premature ovarian failure: A literature review.Frontiers in physiology · 2022Review
- Article
- The Bologna criteria for poor ovarian response: a contemporary critical appraisal.Journal of ovarian research · 2015Review
- A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure.International journal of fertility & sterility · 2013Article
- Investigating the role of X chromosome breakpoints in premature ovarian failure.Molecular cytogenetics · 2012Article
- X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.American journal of human genetics · 2011Article
- Cytogenetic Evaluation and Clinical Correlation: A Retrospective Analysis of East Indian Patients with Diverse Amenorrhea Profiles.Journal of reproduction & infertilityArticle
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPremature ovarian failure (POF) has repeatedly been associated to X-chromosome deletions. FMR1 gene premutation allele's carrier women have an increased risk for POF. We intent to determine the cause of POF in a 29 year old female, evaluating both of these situations.
methodsConcomitant analysis of FMR1 gene CGG repeat number and karyotype revealed an X-chromosome terminal deletion. Fluorescence in situ further characterized the breakpoint. A methylation assay for FMR1 gene allowed to determine its methylation status, and hence, the methylation status of the normal X-chromosome.
resultsWe report a POF patient with a 46,X,del(X)(q26) karyotype and with skewed X-chromosome inactivation of the structural abnormal X-chromosome.
conclusionsDespite the hemizygosity of FMR1 gene, the patient does not present Fragile X syndrome features, since the normal X-chromosome is not subject to methylation. The described deletion supports the hypothesis that haploinsufficiency of X-linked genes can be on the basis of POF, and special attention should be paid to X-linked genes in region Xq28 since they escape inactivation and might have a role in this disorder. A full clinical and cytogenetic characterization of all POF cases is important to highlight a pattern and help to understand which genes are crucial for normal ovarian development.
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Registered trials
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