ReviewHGG advances2022
The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.
Review in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed.
- Karyotypic complexity and mutated TP53 are associated with myeloid neoplasms with ring chromosomes.Hematology, transfusion and cell therapy · 2026Article
- Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.Human genetics · 2026Article
- Ring chromosomes uncovered by optical genome mapping: impact of telomeric-associated regions and reference genome selection on structural variant interpretation.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2026Article
- Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing.Genome research · 2026Article
- Development of a patient-centered conceptual disease model in Ring 14 syndrome: a patient-centered model of lived experience.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- Case Report: Prenatal genetic analysis of a rare fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) karyotype.Frontiers in genetics · 2026Article
- Chromosomal structural abnormalities and tissue-specific mosaicism: insights into false-negative noninvasive prenatal testing.Frontiers in genetics · 2026Article
- Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing.Genetics in medicine open · 2026Article
- Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report.Cureus · 2025Article
- Ring Y chromosome as an unusual cause of severe oligozoospermia.Endocrinology, diabetes & metabolism case reports · 2025Article
- Article
- Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution.Scientific reports · 2025Article
- Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.American journal of medical genetics. Part A · 2025Article
- [Ring chromosome 21 syndrome: report of 2 cases].Revista medica del Instituto Mexicano del Seguro Social · 2025Article
- Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms.Orphanet journal of rare diseases · 2024Review
- Remarkable chromosomes and karyotypes: A top 10 list.Molecular biology of the cell · 2024Review
- Article
- Molecular characterization ofJournal of genetics · 2023Article
- Constitutional Ring Chromosomes in Greek Pediatric Patients: A 50-year Single-center Cytogenetic Study.In vivo (Athens, Greece)Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human ring chromosomes (RCs) are rare diseases with an estimated newborn incidence of 1/50,000 and an annual occurrence of 2,800 patients globally. Over the past 60 years, banding cytogenetics, fluorescence
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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.