ArticleGenetic testing and molecular biomarkers2015
The proportion of diploid 46,XX cells increases with time in women with Turner syndrome--a 10-year follow-up study.
Article in Genetic testing and molecular biomarkers, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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
16 citing papers in PubMed, 59 citations in OpenAlex.
- Aneuploidy in exfoliated buccal cells: mechanisms, methods, and future perspectives.Mutagenesis · 2026Review
- Exploring the interplay of karyotype, hormones, sexuality, and body image perception in individuals with Turner syndrome.Journal of endocrinological investigation · 2025Article
- Hearing Loss and Turner Syndrome: A Scoping Review.The journal of international advanced otology · 2025Article
- Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.American journal of medical genetics. Part A · 2024Article
- Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome.Life (Basel, Switzerland) · 2024Article
- Organ Abnormalities Caused by Turner Syndrome.Cells · 2023Review
- Article
- DNA Hypermethylation and a Specific Methylation Spectrum on the X Chromosome in Turner Syndrome as Determined by Nanopore Sequencing.Journal of personalized medicine · 2022Article
- The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome.Journal of developmental biology · 2022Review
- Cellular consequences of small supernumerary marker chromosome derived from chromosome 12: mosaicism in daughter and father.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2022Article
- Integrative Analyses of Genes Associated With Otologic Disorders in Turner Syndrome.Frontiers in genetics · 2022Article
- Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles.Journal of assisted reproduction and genetics · 2021Article
- Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.European journal of medical genetics · 2021Article
- Short stature andPeerJ · 2020Article
- Side differences in the degree of mosaicism of the buccal mucosa in Turner syndrome.Molecular genetics & genomic medicine · 2019Article
- Mosaicism in health and disease - clones picking up speed.Nature reviews. Genetics · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear cells obtained twice, 10 years apart, from 42 women with TS aged 26-66 years (mean±standard deviation: 42.0±11.6). DNA probes specific for chromosomes X (DXZ1) and Y (DYZ3) were used and >100 cells were analyzed/patient. Nineteen women had monosomy (45,X) (<10% 46,XX), nine had 45,X/46,XX mosaicism, and 14 had iso, ring, or a marker chromosome at baseline. At 10 years, the percentage of diploid cells had increased in 29 of 42 women (69%), with an average increase of 5.7±13.0%. There was a positive correlation between age and % change in diploid 46,XX or 46,XY cells (r=0.38, p=0.023). This new finding might have relevance for the life expectancy in TS.
Indexed as
Identifiers
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.