Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics Approach
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 کاملFISH – The Best Technique in Characterization of Prenatally Detected Small Supernumerary Marker Chromosomes (sSMC)
sSMCs are a major clinical problem, especially when detected prenatally during cytogenetic analysis. The risk for an abnormal phenotype in prenatally ascertained de novo cases with sSMC is ~13%. This has been refined to 7% for sSMC from acrocentric autosomes (excluding 15s) compared with ∼28% for nonacrocentric autosomes [4] and 30% for all sSMC carriers [1]. Strikingly, 30-50% of pregnancies d...
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ژورنال
عنوان ژورنال: Balkan Journal of Medical Genetics
سال: 2007
ISSN: 1311-0160
DOI: 10.2478/v10034-007-0006-5