Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
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 کاملNeocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.
Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC(13) and sSMC(15) had inverted duplicated shapes and the sSMC(2) a ring chromosome shape. All three cases were clinically severely abnormal. A review of the available sSMC literature revealed that up to the present 73 neocentric sSMC case...
متن کاملOverrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC.
Small supernumerary marker chromosomes (sSMC) in human are defined as additional centric derivatives smaller than chromosome 20. In the majority of the cases only one sSMC is present, leading to a more or less stable karyotype of 47,XX,+mar or 47,XY,+mar. In approximately 1.4% of sSMC cases two or up to seven markers of different chromosomal origin are reported. According to the literature a sS...
متن کاملTwo new cases of de novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis.
Small supernumerary marker chromosomes (sSMC) can be defined as structurally abnormal chromosomes that cannot be identified or characterized unambiguously by conventional banding cytogenetics alone, and are (in general) equal in size or smaller than chromosome 20 of the same metaphase spread (Liehr et al., 2004). sSMC are relatively uncommon in the general population. They have been detected wi...
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: Molecular Cytogenetics
سال: 2008
ISSN: 1755-8166
DOI: 10.1186/1755-8166-1-6