Small Supernumerary Marker Chromosomes and Uniparental Disomy Have a Story to Tell
نویسندگان
چکیده
منابع مشابه
LETTER TO JMG Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?
Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. Mechanisms of formation are trisomy rescue, monosomy rescue, post-fertilisation errors, and gamete complementation. Problems associated with UPD include trisomy mosaicism, genomic imprinting, homozygosity of autosomal recessive mutations, or even a combination of these. Supernumerary marker chromos...
متن کاملSupernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?
Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. Mechanisms of formation are trisomy rescue, monosomy rescue, post-fertilisation errors, and gamete complementation. Problems associated with UPD include trisomy mosaicism, genomic imprinting, homozygosity of autosomal recessive mutations, or even a combination of these. Supernumerary marker chromos...
متن کاملSmall 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...
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ژورنال
عنوان ژورنال: Journal of Histochemistry & Cytochemistry
سال: 2011
ISSN: 0022-1554,1551-5044
DOI: 10.1369/0022155411412780