ArticleMolecular cytogenetics2008
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
Article in Molecular cytogenetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 37 citations in OpenAlex.
- Small supernumerary marker chromosomes derived from human chromosome 11.Frontiers in genetics · 2023Article
- Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization.Scientific reports · 2017Article
- Decreased XY recombination and disturbed meiotic prophase I progression in an infertile 48, XYY, +sSMC man.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2015Article
- Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.Molecular cytogenetics · 2015Article
- How to narrow down chromosomal breakpoints in small and large derivative chromosomes--a new probe set.Journal of applied genetics · 2012Article
- Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.Molecular cytogenetics · 2012Article
- Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.Molecular cytogenetics · 2011Article
- Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.Genetics research international · 2011Article
- Small supernumerary marker chromosomes (sSMCs): a spotlight on some nomenclature problems.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2009Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSupernumerary marker chromosomes (SMCs) are structurally abnormal extra chromosomes that cannot be unambiguously identified by conventional banding techniques. In the past, SMCs have been characterized using a variety of different molecular cytogenetic techniques. Although these techniques can sometimes identify the chromosome of origin of SMCs, they are cumbersome to perform and are not available in many clinical cytogenetic laboratories. Furthermore, they cannot precisely determine the region or breakpoints of the chromosome(s) involved. In this study, we describe four patients who possess one or more SMCs (a total of eight SMCs in all four patients) that were characterized by microarray comparative genomic hybridization (array CGH).
resultsIn at least one SMC from all four patients, array CGH uncovered unexpected complexity, in the form of complex rearrangements, that could have gone undetected using other molecular cytogenetic techniques. Although array CGH accurately defined the chromosome content of all but two minute SMCs, fluorescence in situ hybridization was necessary to determine the structure of the markers.
conclusionThe increasing use of array CGH in clinical cytogenetic laboratories will provide an efficient method for more comprehensive characterization of SMCs. Improved SMC characterization, facilitated by array CGH, will allow for more accurate SMC/phenotype correlation.
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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.