Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23683
Abstract: We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre‐ or postnatal diagnosis and associated with increased maternal age. Four sSMCs… read more here.
Keywords: chromosomes legacy; supernumerary marker; marker chromosomes; legacy trisomy ... See more keywords
Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.
Sign Up to like & getrecommendations! Published in 2022 at "Stem cell research"
DOI: 10.1016/j.scr.2022.102740
Abstract: Human induced pluripotent stem cell (iPSC) line, ICGi040-A, was obtained from skin fibroblasts derived from a male patient with mosaic ring small supernumerary marker chromosome 4 (sSMS(4)) and infertility. ICGi040-A cells have karyotype 47,XY,+r(4) in… read more here.
Keywords: skin fibroblasts; supernumerary marker; ring small; line icgi040 ... See more keywords
Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-10466-z
Abstract: The variability of a small supernumerary marker chromosome (sSMC)-related phenotype is determined by the molecular component, the size, and shape of the marker chromosome. As fluorescence in situ hybridization has limitations regarding the resolution, efficiency,… read more here.
Keywords: marker chromosome; hybridization; marker; characterization ... See more keywords
Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome
Sign Up to like & getrecommendations! Published in 2021 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2021.1911992
Abstract: Abstract Objective To summarize the clinical characteristics of Turner syndrome (TS) with a small supernumerary marker chromosome (sSMC) and discuss the clinical significance and management of TS patients with sSMC. Methods A retrospective analysis was… read more here.
Keywords: marker chromosome; positive patients; patients ssmc; supernumerary marker ... See more keywords
Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review
Sign Up to like & getrecommendations! Published in 2019 at "BioMed Research International"
DOI: 10.1155/2019/9398275
Abstract: Small supernumerary marker chromosomes (sSMCs), equal in size or smaller than chromosome 20 of the same metaphase, can hardly be identified through traditional banding technique. They are usually associated with intelligent disability, growth retardation, and… read more here.
Keywords: infertile male; ssmc; supernumerary marker; infertile ... See more keywords
Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature
Sign Up to like & getrecommendations! Published in 2018 at "Cytogenetic and Genome Research"
DOI: 10.1159/000494682
Abstract: Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient… read more here.
Keywords: marker chromosome; complex small; 21q duplications; chromosome ... See more keywords
Cellular consequences of small supernumerary marker chromosome derived from chromosome 12: mosaicism in daughter and father
Sign Up to like & getrecommendations! Published in 2022 at "Brazilian Journal of Medical and Biological Research"
DOI: 10.1590/1414-431x2022e12072
Abstract: Constitutional genomic imbalances are known to cause malformations, disabilities, neurodevelopmental delay, and dysmorphia and can lead to dysfunctions in the cell cycle. In extremely rare genetic conditions such as small supernumerary marker chromosomes (sSMC), it… read more here.
Keywords: supernumerary marker; marker; ssmc cells; cell cycle ... See more keywords