Affiliation:
1. Institute of Human Genetics and Anthropology, Friedrich-Schiller-University Jena, Germany1
Abstract
Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics ApproachSmall supernumerary marker chromosomes (sSMC) are still a major problem especially in prenatal cytogenetic diagnostics and counseling. These structurally abnormal chromosomes cannot be identified or characterized unambiguously by conventional banding cytogenetics alone, and are generally about the size of or smaller than a chromosome 20 in the same metaphase spread. We describe a straightforward algorithm, based on data from 2,211 reported cases (http://www.markerchromosomes.ag.vu) to quickly characterize the sSMC's chromosomal origin.
Subject
Genetics (clinical),Genetics
Reference22 articles.
1. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics;T Liehr;Int J Mol Med,2007
2. Small supernumerary marker chromosomes (sSMC) in humans;T Liehr;Cytogenet Genome Res,2004
3. Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome;A Paoloni-Giacobino;Prenat Diagn,1998
4. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints;D Warburton;Am J Hum Genet,1991
5. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature;J Crolla;Am J Med Genet,1998
Cited by
2 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献