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Small Supernumerary Marker Chromosomes (sSMC)
2012Small supernumerary marker chromosomes (sSMC) , Small supernumerary marker chromosomes (sSMC) , کتابخانه مرکزی دانشگاه علوم پزشکی ...
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Multiple Small Supernumerary Marker Chromosomes
2011If a small supernumerary marker chromosome (sSMC) carrier has not only one (or more identical) centric sSMC derived from only one chromosome, but has two or more sSMC each derived from different chromosomes, one speaks of “multiple sSMC.” Most of the carriers of multiple sSMC are clinically abnormal and often severely impaired; there are only a few ...
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Small Supernumerary Marker Chromosomes and Tumors
2011Marker chromosomes, also supernumerary ones, are regularly observed in tumor cytogenetics. However, they are mostly larger than a chromosome 20 of the same metaphase spread, and thus they are not small supernumerary marker chromosomes (sSMC) by definition. Additionally, and more importantly, these supernumerary marker chromosomes and sSMC in tumors are
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Formation of Small Supernumerary Marker Chromosomes
2011In general, not much is known about the exact mode of small supernumerary marker chromosome (sSMC) formation. Especially, when, why, and how during gametogenesis or embryogenesis an sSMC evolves is unclear. Nonetheless, for all kinds of sSMC shapes there are models for how they could be formed.
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Inheritance of Small Supernumerary Marker Chromosomes
2011Here the mode of small supernumerary marker chromosome (sSMC) inheritance, i.e., if it is de novo or familial, is treated. Also sSMC and Bchromosomes are compared, as there are several similarities between them: both represent a heterogeneous collection of chromosomes added to the standard karyotype, both are small, both may consist of heterochromatic ...
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Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient
Cytogenetic and Genome Research, 2005Small supernumerary marker chromosomes (sSMC) are small additional chromosomes characterizable for their origin only by molecular cytogenetic approaches. sSMC have been reported previously in four types of syndromes associated with chromosomal imbalances: in ∼150 cases with Turner syndrome, 26 cases with Down syndrome and only one case each with ...
T, Liehr +4 more
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Complex Small Supernumerary Marker Chromosomes
2011Complex rearranged small supernumerary marker chromosomes (sSMC) consisting of parts from two or more different chromosomes can be formed. The most frequently observed complex sSMC are those present in Emanuel syndrome. Most often, complex sSMC have centric minute shape, followed by inverted duplication shape and ring shape. Chromosome 15 is most often
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Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p
Cytogenetic and Genome Research, 2008We describe the clinical case of a nine-year-old boy with psychomotor retardation and a small supernumerary marker chromosome (sSMC) present in mosaic form. Fluorescence in situ hybridization (FISH) using centromere cross-hybridizing probes D1/5/19Z (pZ5.1), the whole chromosome paint probe 19, pool YACs19p (839B1, 872G3, 728C8), and pool YACs19q ...
Babić Božović, Ivana +4 more
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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification
Human Genetics, 2003Small supernumerary marker chromosomes (SMCs) are present in about 0.05% of the human population. In approximately 30% of SMC carriers (excluding the approximately 60% SMC derived from one of the acrocentric chromosomes), an abnormal phenotype is observed.
Heike, Starke +23 more
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Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes
Cytogenetic and Genome Research, 2012Somatic mosaicism is present in slightly more than 50% of small supernumerary marker chromosome (sSMC) carriers. Interestingly, non-acrocentric derived sSMC show mosaicism much more frequently than acrocentric ones. sSMC can be present in different mosaic rates, which may go below 5% of the studied cells.
T, Liehr +8 more
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