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Article

Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction.

Human reproduction (Oxford, England) - 1 Feb 2006

Fimiani Giorgia, Laperuta Carmela, Falco Geppino, Ventruto Valerio, D'Urso Michele, Ursini Matilde Valeria, Miano Maria Giuseppina

Abstract excerpt

BACKGROUND: Deletions of Xq chromosome are reported for a number of familial conditions exhibiting premature ovarian failure (POF) and early menopause (EM). METHODS AND RESULTS: We describe the inheritance of an interstitial deletion of the long arm of the X chromosome associated with either POF or EM in the same family. Cytogenetic studies and heterozygosity mapping by quantitative fluorescent PCR revealed a...

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Share to Chromosome Deletion
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Karyotyping

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Source

Identifiers

PMID: 16239311
DOI: 10.1093/humrep/dei356

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction.PMID 16239311Read ↗

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