ReviewAdvanced biomedical research2015
Small supernumerary marker chromosomes and their correlation with specific syndromes.
Review in Advanced biomedical research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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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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Who cites it
26 citing papers in PubMed.
- B chromosomes put the 'super' in supernumerary.Trends in genetics : TIG · 2026Review
- Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel Report.Clinical case reports · 2025Article
- Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2024Article
- Human DNA Mutations and their Impact on Genetic Disorders.Recent patents on biotechnology · 2024Review
- Selective Inhibition of ATM-dependent Double-strand Break Repair and Checkpoint Control Synergistically Enhances the Efficacy of ATR Inhibitors.Molecular cancer therapeutics · 2023Article
- Supernumerary Marker Chromosome Identified in Asian Elephant (Animals : an open access journal from MDPI · 2023Article
- Article
- De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2022Article
- Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes.Journal of human genetics · 2022Article
- Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.Frontiers in genetics · 2022Article
- Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.Biomedicines · 2021Article
- Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC).BioMed research international · 2021Article
- Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.Molecular cytogenetics · 2020Article
- Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.Molecular cytogenetics · 2020Article
- Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.Molecular cytogenetics · 2020Article
- Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.Molecular cytogenetics · 2020Article
- Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.PLoS genetics · 2019Article
- Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.Molecular cytogenetics · 2019Article
- Article
- Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome. It is an additional chromosome smaller than one chromosome most often lacking a distinct banding pattern and is rarely identifiable by conventional banding cytogenetic analysis. The origin and composition of an sSMC is recognizable by molecular cytogenetic analysis. These sSMCs are seen in different shapes, including the ring, centric minute, and inverted duplication shapes. The effects of sSMCs on the phenotype depend on factors such as size, genetic content, and the level of the mosaicism. The presence of an sSMC causes partial tris- or tetrasomy, and 70% of the sSMC carriers are clinically normal, while 30% are abnormal in some way. In 70% of the cases the sSMC is de novo, in 20% it is inherited from the mother, and in 10% it is inherited from the father. An sSMC can be causative for specific syndromes such as Emanuel, Pallister-Killian, or cat eye syndromes. There may be more specific sSMC-related syndromes, which may be identified by further investigation. These 10 syndromes can be useful for genetic counseling after further study.
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