ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Mosaic Turner syndrome shows reduced penetrance in an adult population study.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 4 of them syntheses that pooled it.
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Who cites it
68 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2023Pooled it
- Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.Molecular genetics & genomic medicine · 2020Pooled it
- Evidence for penetrance in patients without a family history of disease: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- Review
- Optimizing the diagnostic approach for sex chromosome and autosomal mosaicism in amniotic fluid: integrating karyotyping with CNV-seq.Journal of assisted reproduction and genetics · 2026Article
- Relationship between X chromosome mosaicism, neuroanatomy and cognitive performance in females.bioRxiv : the preprint server for biology · 2026Article
- Global burden and health inequalities of sex chromosomal DSDs (1990-2021): a GBD 2021 analysis.International urology and nephrology · 2026Article
- Approach to the Patient With Turner Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De NovoInternational journal of molecular sciences · 2025Article
- Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.Nature communications · 2025Article
- Single-cell transcriptomics of organoids reveals transcriptional control of germline stem cell fate by an E2F1-TFAP2C-SOX17 positive-feedback loop in Turner syndrome.Cell & bioscience · 2025Article
- XXX/XY chimerism with urogenital malformations in a Japanese black calf.Irish veterinary journal · 2025Article
- Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction.Clinical chemistry and laboratory medicine · 2025Article
- X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal cell-free DNA screening.Journal of genetic counseling · 2025Article
- Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses.BMC medical genomics · 2025Article
- Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes.NPJ genomic medicine · 2025Article
- Turner syndrome: fertility, familial clustering, and cancer risk.Human reproduction (Oxford, England) · 2025Article
8 more citing papers are in PubMed but not listed here.
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15 authors.
Funding
Abstract
purposeMany women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, ascertainment of cases in the clinic may mean that the penetrance has been overestimated.
methodsWe characterized the prevalence and phenotypic consequences of X chromosome aneuploidy in a population of 244,848 women over 40 years of age from UK Biobank, using single-nucleotide polymorphism (SNP) array data.
resultsWe detected 30 women with 45,X; 186 with mosaic 45,X/46,XX; and 110 with 47,XXX. The prevalence of nonmosaic 45,X (12/100,000) and 47,XXX (45/100,000) was lower than expected, but was higher for mosaic 45,X/46,XX (76/100,000). The characteristics of women with 45,X were consistent with the characteristics of a clinically recognized Turner syndrome phenotype, including short stature and primary amenorrhea. In contrast, women with mosaic 45,X/46,XX were less short, had a normal reproductive lifespan and birth rate, and no reported cardiovascular complications. The phenotype of women with 47,XXX included taller stature (5.3 cm; SD = 5.52 cm; P = 5.8 × 10
conclusionOur results suggest that the clinical management of women with 45,X/46,XX mosaicism should be minimal, particularly those identified incidentally.
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