Journal ArticleDOI
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
Britt-Marie Anderlid,Sigrid Sahlén,Jacqueline Schoumans,Eva Holmberg,Ingegerd Åhsgren,Geert Mortier,Frank Speleman,Elisabeth Blennow +7 more
TLDR
Twelve patients with varying degrees of mosaicism for a supernumerary ring chromosome were studied, making it possible to determine the chromosomal origin of the ring chromosomes in detail, and thus to compare the phenotypes of similar cases.Abstract:
Twelve patients with varying degrees of mosaicism for a supernumerary ring chromosome were studied. The ring chromosomes were characterized using microdissection in combination with degenerate nucleotide-primed polymerase chain reaction (PCR) and reverse painting (micro-FISH). This method made it possible to determine the chromosomal origin of the ring chromosomes in detail, and thus to compare the phenotypes of similar cases. Eleven of the marker chromosomes were derived from the most proximal part of 1p, 3p, 3q, 5p, 7q, 8p, 8q, 9p, 10p and 20p. One marker chromosome had a complex origin, including the proximal and the most distal part of 20q. Eight of the families were also investigated for uniparental disomy (UPD) using microsatellite analysis. One case with maternal UPD 9 was found in a child with a ring chromosome derived from chromosome 9, r(9)(p10p12). © 2001 Wiley-Liss. Inc.read more
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Journal ArticleDOI
Small supernumerary marker chromosomes (sSMC) in humans.
TL;DR: An overview of small supernumerary marker chromosomes is presented, including the first attempt to address problems of nomenclature and their modes of formation, problems connected with mosaicism plus familial occurrence and a short review of the up-to-date approaches available for sSMC characterization.
Atlas of Genetics and Cytogenetics in Oncology and Haematology
TL;DR: WWTR1 (also called TAZ in publications) is a WW domaing-containing transcriptional coactivator, which was first identified as a 14-3-3 binding protein that is involved in mesenchymal stem cell differentiation as well as tumorigenesis.
Journal ArticleDOI
Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation
Thomas Liehr,Kristin Mrasek,Anja Weise,Andreas Dufke,Laura Rodríguez,N. Martínez Guardia,A Sanchís,Joris Vermeesch,Christian Ramel,A Polityko,O A Haas,Jasen Anderson,Uwe Claussen,F. von Eggeling,Heike Starke +14 more
TL;DR: The first draft of a basic genotype-phenotype correlation for sSMC for all human chromosomes apart from the chromosomes Y, 10, 11 and 13 is presented.
Journal ArticleDOI
Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated
Dieter Kotzot,Gerd Utermann +1 more
TL;DR: The problems associated with UPD are discussed and a comprehensive clinical summary with a bibliography for each UPD other than 15 is provided as a guide for genetic counseling.
Journal ArticleDOI
Complex and segmental uniparental disomy updated
TL;DR: The number of reported cases with segmental UPD or UPD associated with a marker chromosome clearly increased within the last few years, and that the investigation of both parents in cases with homozygosity of an autosomal recessively inherited mutation in some cases might help improve genetic counselling, resulting in a reduced recurrence risk in the case of UPD.
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Small supernumerary marker chromosomes (sSMC) in humans.
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Heike Starke,Angela Nietzel,Anja Weise,Anita Heller,Kristin Mrasek,Britta Belitz,Christine Kelbova,Marianne Volleth,Beate Albrecht,Beate Mitulla,Ralf Trappe,Iris Bartels,Sabine Adolph,Andreas Dufke,Sylke Singer,Markus Stumm,Rolf-Dieter Wegner,J. Seidel,Angela Schmidt,Alma Kuechler,Isolde Schreyer,Uwe Claussen,Ferdinand von Eggeling,Thomas Liehr +23 more