ArticleJournal of medical genetics2000
Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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.
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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.
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Who cites it
9 citing papers in PubMed, 43 citations in OpenAlex.
- First case of two supernumerary markers derived from chromosome 5 and chromosome 8.Molecular cytogenetics · 2022Article
- Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.Molecular cytogenetics · 2018Article
- Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.American journal of medical genetics. Part A · 2017Article
- Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.Molecular cytogenetics · 2016Article
- Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.Clinical medicine insights. Case reports · 2015Article
- Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.Journal of applied genetics · 2011Review
- Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male.Molecular cytogenetics · 2009Article
- Reverse painting highlights the origin of chromosome aberrations.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2004Review
- Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.Human genetics · 2003Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A large number of cases with supernumerary marker chromosomes (SMCs) should be compared to achieve a better delineation of karyotype-phenotype correlations. Here we present four phenotypically abnormal patients with autosomal marker chromosomes analysed by fluorescence in situ hybridisation using centromeric, telomeric, and unique sequence probes, as well as forward and reverse painting. We also report the first case, to the best of our knowledge, of an SMC derived from chromosome 5. Furthermore, a marker chromosome 20 in a patient with sex differentiation abnormalities, a double mar(6) in a boy with psychomotor retardation, and the association of r(19) with dup(21q21.2q22.12) are described. Although the mar(6) was very small, the presence of euchromatin was shown, suggesting that the partial trisomy of pericentric region derived sequences is implicated in the aetiology of the abnormal phenotypes.
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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.