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Article

The first case described: monozygotic twin sisters with the fragile X premutation but with a different phenotype for premature ovarian failure.

Fertility and sterility - 1 Jun 2011

Johnston-MacAnanny Erika B, Koty Patrick, Pettenati Mark, Brady Megan, Yalcinkaya Tamer M, Schmidt David W

Abstract excerpt

OBJECTIVE: To describe the first case of monozygotic twin sisters with fragile X premutation and discordance for premature ovarian failure (POF). DESIGN: A descriptive case study. SETTING: Academic center. PATIENT(S): Monozygotic twin sisters with fragile X premutation and discordance for POF. INTERVENTION(S): Serum laboratory testing, fragile X premutation screening, zygosity testing, X-inactivation ratio and...

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Share to Chromosomes, Human, X
Share to Fragile X Mental Retardation Protein

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

Share to Fragile X Syndrome

Share to Primary Ovarian Insufficiency

Share to Receptors, Androgen

Share to Twins, Monozygotic

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 21300345
DOI: 10.1016/j.fertnstert.2011.01.039

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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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