Small Supernumerary Marker Chromosomes (sSMCs): A Spotlight on Some Nomenclature Problems
نویسندگان
چکیده
منابع مشابه
Small supernumerary marker chromosomes (sSMC) in humans.
Small supernumerary marker chromosomes (sSMC), defined as additional centric chromosome fragments too small to be identified or characterized unambiguously by banding cytogenetics alone, are present in 0.043% of newborn children. Several attempts have been made to correlate certain sSMC with a specific clinical picture, resulting in the description of several syndromes such as the i(18p)-, der(...
متن کاملSmall Supernumerary Marker Chromosomes in Human Infertility.
Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by banding cytogenetics. The objective of this study was to provide an overview of sSMC frequency and characterization in a context of infertility and to review the literature describing sSMC in relation with male and female infertility. Therefore, a systematic literature ...
متن کاملSmall supernumerary marker chromosomes 1 with a normal phenotype.
Small supernumerary marker chromosomes (sSMCs) are a major problem in prenatal cytogenetic diagnostics. Over two-thirds of cases carrying an sSMC derived from chromosome 1 are associated with clinical abnormalities. We report 3 further cases of such sSMCs that did not show any clinical abnormalities. All 3 sSMCs studied were detected prenatally and characterized comprehensively for their geneti...
متن کاملSomatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes
Somatic mosaicism is something that is observed in everyday lives of cytogeneticists. Chromosome instability is one of the leading causes of large-scale genome variation analyzable since the correct human chromosome number was established in 1956. Somatic mosaicism is also a well-known fact to be present in cases with small supernumerary marker chromosomes (sSMC), i.e. karyotypes of 47,+mar/46....
متن کاملMitotic stability of small supernumerary marker chromosomes: a study based on 93 immortalized cell lines.
Small supernumerary marker chromosomes (sSMC) are known for being present in mosaic form as 47,+mar/46 in >50% of the cases with this kind of extra chromosomes. However, no detailed studies have been done for the mitotic stability of sSMC so far, mainly due to the lack of a corresponding in vitro model system. Recently, we established an sSMC-cell bank (Else Kröner-Fresenius-sSMC-cellbank) with...
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ژورنال
عنوان ژورنال: Journal of Histochemistry & Cytochemistry
سال: 2009
ISSN: 0022-1554,1551-5044
DOI: 10.1369/jhc.2009.954370