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

doi:10.1016/j.fertnstert.2011.01.039

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

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...

Topics

Blotting, Southern
Chromosomes, Human, X
DNA Methylation
DNA Mutational Analysis
Female
Fertility
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Predisposition to Disease
Humans
Mutation
Ovary
Phenotype

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Primary Ovarian Insufficiency

Receptors, Androgen

Twins, Monozygotic

X Chromosome Inactivation

Source

Open in PubMed

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.