ReviewJournal of applied genetics2011
Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.
Review in Journal of applied genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Small supernumerary marker chromosomes derived from human chromosome 11.Frontiers in genetics · 2023Article
- First case of two supernumerary markers derived from chromosome 5 and chromosome 8.Molecular cytogenetics · 2022Article
- Small Supernumerary Marker Chromosome May Provide Information on Dosage-insensitive Pericentric Regions in Human.Current genomics · 2018Article
- Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.Molecular cytogenetics · 2018Article
- MLPA analysis in a cohort of patients with autism.Molecular cytogenetics · 2017Article
- Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.Molecular cytogenetics · 2016Article
- Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving theTranslational neuroscience · 2015Review
- [Chromosome markers: case report].The Pan African medical journal · 2013Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Small supernumerary marker chromosomes (sSMC) are a morphological heterogeneous group of additional abnormal chromosomes that cannot be characterized alone by conventional banding cytogenetics. Molecular cytogenetic techniques are valuable tools for the accurate identification of sSMC and a prerequisite for sound genetic counseling based on refined genotype/phenotype correlation. We describe a new case of a retarded patient with an sSMC derived from chromosome 5. The characterization of the sSMC was done by subcentromere-specific multicolor (subcenM) fluorescence in-situ hybridization (FISH) and by full tilling resolution array analysis, after microdissection and amplification of the marker DNA. Uniparental disomy for normal sister chromosomes of the sSMC(5) was excluded. The karyotype was mos47,XX,+r(5)(::p11.1 → q12.1::)[70%]/46,XX[30%], being the trisomic region between 46.15 ∼ 49.56 Mb and 61.25 ∼ 61.335 Mb, a region known to harbor ∼45 annotated genes. Together with a review of the previously described cases of sSMC(5) and duplications involving the 5q proximal region, we can conclude that trisomy of the 5q11 region is associated with learning difficulties and speech delay.
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