ReviewTranslational pediatrics2015
Autosomal ring chromosomes in human genetic disorders.
Review in Translational pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 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
26 citing papers in PubMed, 61 citations in OpenAlex.
- Karyotypic complexity and mutated TP53 are associated with myeloid neoplasms with ring chromosomes.Hematology, transfusion and cell therapy · 2026Article
- Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing.Genetics in medicine open · 2026Article
- Supernumerary ring chromosome 1 syndrome leads to fusion-driven B-cell acute lymphoblastic leukemia in monozygotic twins.Blood advances · 2025Article
- Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report.Case reports in genetics · 2025Article
- Drosophila ring chromosomes interact with sisters and homologs to produce anaphase bridges in mitosis.Genetics · 2024Article
- Drosophila ring chromosomes interact with sisters and homologs to produce anaphase bridges in mitosis.bioRxiv : the preprint server for biology · 2024Article
- A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.Genetics in medicine open · 2024Article
- Article
- Exploring Genetic Interactions with Telomere Protection GeneBiomolecules · 2023Review
- The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.HGG advances · 2022Review
- The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.Molecular genetics & genomic medicine · 2021Review
- Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming.Scientific reports · 2021Article
- Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model.Frontiers in genetics · 2021Article
- Chromosome instability induced by a single defined sister chromatid fusion.Life science alliance · 2020Article
- From Genetic Testing to Precision Medicine in Epilepsy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020Review
- Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.Journal of medical case reports · 2018Review
- A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature.Italian journal of pediatrics · 2018Review
- Ring chromosomes: from formation to clinical potential.Protoplasma · 2018Review
- Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.Molecular cytogenetics · 2018Article
- Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies.Molecular cytogenetics · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ring chromosomes arise following breakage and rejoining in both chromosome arms. They are heterogeneous with variable size and genetic content and can originate from any chromosome. Phenotypes associated with ring chromosomes are highly variable as apart from any deletion caused by ring formation, imbalances from ring instability can also occur. Of interest is ring chromosome 20 which has a significant association with epilepsy with seizure onset in early childhood. Severe growth deficiency without major malformations is a common finding in the ring chromosome carrier. This phenotype associated with ring behaviour and mitotic instability and independent of the chromosome involved has been termed the "ring syndrome". Precise genotype-phenotype correlations for ring chromosomes may not be possible as influencing factors vary depending on the extent of deletion in ring formation, ring instability and the level of mosaicism. Although ring chromosomes usually arise as de novo events, familial transmission of rings from carrier to offspring has been described and prenatal diagnosis for any pregnancies should always be considered.
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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.