ArticleMolecular cytogenetics2020
Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.
Article in Molecular cytogenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.Journal of clinical immunology · 2023Pooled it
- The Genomic Kaleidoscope: On the Hidden Dimensions of Within-Species Genomic Diversity.Genome biology and evolution · 2025Review
- 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
- Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism.Frontiers in genetics · 2024Article
- Article
- Be careful with small supernumerary marker chromosomes!Frontiers in genetics · 2023Article
- Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC).BioMed research international · 2021Article
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
backgroundSmall supernumerary marker chromosomes (sSMCs) are rare structural abnormalities in the population; however, they are frequently found in children or fetuses with hypoevolutism and infertile adults. sSMCs are usually observed first by karyotyping, and further analysis of their molecular origin is important in clinical practice. Next-generation sequencing (NGS) combined with Sanger sequencing helps to identify the chromosomal origins of sSMCs and correlate certain sSMCs with a specific clinical picture.
resultsKaryotyping identified 75 sSMCs in 74,266 samples (0.1% incidence). The chromosomal origins of 27 of these sSMCs were detected by sequencing-related techniques (NGS, MLPA and STR). Eight of these sSMCs are being reported for the first time. sSMCs mainly derived from chromosomal X, Y, 15, and 18, and some sSMC chromosomal origins could be correlated with clinical phenotypes. However, the chromosomal origins of the remaining 48 sSMC cases are unknown. Thus, we will develop a set of economical and efficient methods for clinical sSMC diagnosis.
conclusionsThis study details the comprehensive characterization of 27 sSMCs. Eight of these sSMCs are being reported here for the first time, providing additional information to sSMC research. Identifying sSMCs may reveal genotype-phenotype correlations and integrate genomic data into clinical care.
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