ArticleAmerican journal of human genetics1995
Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed.
- Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.BMC pediatrics · 2024Review
- Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family.Molecular cytogenetics · 2023Article
- Auricular fistula: a review of its clinical manifestations, genetics, and treatments.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Article
- Cecr2 mutant mice as a model for human cat eye syndrome.Scientific reports · 2021Article
- Article
- A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.Molecular cytogenetics · 2014Article
- Coloboma and anorectal malformations: a rare association with important clinical implications.Pediatric surgery international · 2013Article
- A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.European journal of human genetics : EJHG · 2012Article
- Interrupted aortic arch type B in A patient with cat eye syndrome.Arquivos brasileiros de cardiologia · 2009Article
- Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.American journal of human genetics · 2008Article
- Transgenic expression of CECR1 adenosine deaminase in mice results in abnormal development of heart and kidney.Transgenic research · 2005Article
- Genomic disorders on 22q11.American journal of human genetics · 2002Review
- Adenosine deaminase-related growth factors stimulate cell proliferation in Drosophila by depleting extracellular adenosine.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.Genome research · 2001Article
- Update and Review: Supernumerary Marker Chromosomes.Journal of genetic counseling · 2000Article
- A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.American journal of human genetics · 1999Article
- Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.American journal of human genetics · 1999Article
- Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
- Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.Journal of medical genetics · 1996Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome (inv dup 22pter-22q11.2) resulting in four copies of this region. We describe an individual showing the inheritance of a minute supernumerary double ring chromosome 22, which resulted in expression of all cardinal features of CES. The size of the ring was determined by DNA dosage analysis and FISH analysis for five loci mapping to 22q11.2. The probes to the loci D22S9, D22S43, and ATP6E were present in four copies, whereas D22S57 and D22S181 were present in two copies. This finding further delineates the distal boundary of the critical region of CES, with ATP6E being the most distal duplicated locus identified. The phenotypically normal father and grandfather of the patient each had a small supernumerary ring chromosome and demonstrated three copies for the loci D22S9, D22S43, and ATP6E. Although three copies of this region have been reported in other cases with CES features, it is possible that the presence of four copies leads to greater susceptibility.
Indexed as
Identifiers
7668296PMC1801256What 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.