ArticleHuman genetics1993
Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.
Article in Human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.Orphanet journal of rare diseases · 2017Guideline
- The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.HGG advances · 2022Review
- A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period.Molecular syndromology · 2020Article
- Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.BMC medical genomics · 2019Article
- 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
- Autosomal ring chromosomes in human genetic disorders.Translational pediatrics · 2015Review
- Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.BMC medical genomics · 2013Article
- Ring autosomes: some unexpected findings.Balkan journal of medical genetics : BJMG · 2012Article
- Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.Journal of Korean medical science · 2012Article
- Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.BMC medical genetics · 2010Article
- Ring chromosome 12 and severe oligospermia: a case report.Fertility and sterility · 2008Article
- Ring chromosome 15: characterization by array CGH.Human genetics · 2006Article
- Localization of subtelomeric sequences of human chromosomes 1q, 11p, 13q, and 16q in the higher primates.Genetica · 1999Article
- Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4.American journal of human genetics · 1995Article
- Molecular analysis redefines three human chromosome 14 deletions.Human genetics · 1995Article
- Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.Journal of medical genetics · 1993Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In situ hybridization of a telomeric (TTA-GGG)n sequence to metaphases from three cases of ring chromosome, involving respectively chromosomes 4, 16, and 20, showed the presence of the cognate sequences in all three rings. To investigate whether these ring chromosomes originated by telomere-telomere fusion, we determined, by in situ hybridization, whether telomere-associated sequences and/or specific distal sequences were still present in the ring chromosomes. The finding that these sequences were preserved in all the ring chromosomes strongly indicates that they originated by telomere-telomere fusion. All three subjects carrying the ring chromosomes are affected by the so-called ring syndrome, with failure to thrive, minor dysmorphic signs and no major anomalies. The r(4) patient has the ring in mosaic form with a normal cell line and has normal intelligence. The r(16) and the r(20) patients have moderate mental retardation and suffer from seizures. We conclude that the ring syndrome, even in its more severe manifestation, is caused by ring chromosome instability.
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