ReviewFertility and sterility2012
Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism.
Review in Fertility and sterility, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 124 citations in OpenAlex.
- Live birth rate after oocyte donation in females diagnosed with turner syndrome: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2024Pooled it
- Body composition and bone mineral status in patients with Turner syndrome.Scientific reports · 2016Trial
- Clinical analysis of prenatal diagnosis, ultrasound findings, and follow-up in 92 Turner mosaic fetuses: a retrospective analysis of 12-year experience.BMC pregnancy and childbirth · 2026Article
- Fertility preservation in turner syndrome: a case report integrating clinical presentation with genomic and molecular mechanistic analyses.Journal of assisted reproduction and genetics · 2026Article
- Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences.Prenatal diagnosis · 2025Article
- Inadequate Gonadal Replacement in Patients with Turner Syndrome may Result in Pituitary Volume EnlargementCurrent medical imaging · 2025Article
- Bilateral Streak Ovaries in a Patient with Isochromosome Xq: A Case Report of a Turner Syndrome Variant.International medical case reports journal · 2025Article
- Identification of apelin/APJ signaling dysregulation in a human iPSC-derived granulosa cell model of Turner syndrome.Cell death discovery · 2024Article
- The impact of amplification on quality of life in women with Turner syndrome.Orphanet journal of rare diseases · 2024Article
- Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry.Orphanet journal of rare diseases · 2024Article
- Telomere Dysfunction in Pediatric Patients with Differences/Disorders of Sexual Development.Biomedicines · 2024Article
- Detection of chromosomal aneuploidy in ancient genomes.Communications biology · 2024Article
- Yolk Sac Tumor of the Ovary in Mosaic 46XX Turner Syndrome.International journal of women's health · 2024Article
- Turner Syndrome with Mosaicism of X Chromosome: A Case Report.JNMA; journal of the Nepal Medical Association · 2023Article
- Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.Human genetics · 2023Article
- Non-mosaic X monosomy (77,X) in a female dog with signs of virilization.Journal of applied genetics · 2023Article
- Reproductive health in Turner's syndrome: from puberty to pregnancy.Frontiers in endocrinology · 2023Review
- Liver Abnormalities in Turner Syndrome: The Importance of Estrogen Replacement.Journal of the Endocrine Society · 2022Review
- Satellite DNAs and human sex chromosome variation.Seminars in cell & developmental biology · 2022Review
- [Thyrotoxicosis in a patient with Turner syndrome: radioactive iodine therapy].Problemy endokrinologii · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Turner syndrome (TS) is a complex developmental disorder in individuals with short stature who possess a 45,X cell line, with or without mosaicism. Because the single X chromosome is maternally derived in 80% of patients, the genesis of the 45,X karyotype is due to instability of the Y chromosome leading to its loss during meiosis. Phenotypic features vary depending on the mode of ascertainment, with postnatal presentation usually generating a more severe phenotype than a prenatal one. Although patients with pure 45,X present with delayed puberty more often than those with mosaicism for 46,XX or 47,XXX cell lines, the chromosomal complement cannot reliably predict the clinical presentation. Most living TS patients are mosaics, whereas nearly all first-trimester TS fetuses have a single 45,X cell line. Exclusion of a Y cell line, the presence of which increases the risk of gonadoblastomas and subsequent gonadal germ cell tumors, is best accomplished by karyotype, fluorescence in situ hybridization, and DNA analysis if necessary. The precise genetic etiology of TS has not been elucidated, but it does appear that deletion of the short arm of the X chromosome is sufficient to result in the TS phenotype, thereby implicating haploinsufficiency of multiple genes, including SHOX.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.