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Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes

dc.contributor.authorVan Keuren, Margaret L.en_US
dc.contributor.authorStewart, Gordon D.en_US
dc.contributor.authorBradley, Cynthia M.en_US
dc.contributor.authorKurnit, David M.en_US
dc.contributor.authorNeve, Rachael L.en_US
dc.contributor.authorWatkins, Paul C.en_US
dc.contributor.authorTanzi, Rudolph E.en_US
dc.contributor.authorGusella, James F.en_US
dc.contributor.authorPatterson, Daviden_US
dc.date.accessioned2006-04-28T16:48:10Z
dc.date.available2006-04-28T16:48:10Z
dc.date.issued1989-07en_US
dc.identifier.citationVan Keuren, Margaret L.; Stewart, Gordon D.; Bradley, Cynthia M.; Kurnit, David M.; Neve, Rachael L.; Watkins, Paul C.; Tanzi, Rudolph E.; Gusella, James F.; Patterson, David (1989)."Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes." American Journal of Medical Genetics 33(3): 369-375. <http://hdl.handle.net/2027.42/38249>en_US
dc.identifier.issn0148-7299en_US
dc.identifier.issn1096-8628en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/38249
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2529766&dopt=citationen_US
dc.description.abstractIn a previous case of a newborn infant with typical Down syndrome, chromosome analysis indicated the presence of an unusual and complex translocation of chromosome 21. The patient's cells contained one normal chromosome 21 and a rearranged, F group-sized submeta-centric chromosome. This abnormal chromosome appeared to involve duplication of the distal portion of 21q with translocation to the short arm, and a deletion of C-band-positive centromeric heterochromatin. Using linearly ordered cloned DNA probes, we report the detailed molecular examination of this abnormal chromosome, which has been isolated on a hamster background in a hybrid cell line. Both short arm and pericentromeric sequences are present on this chromosome, as well as distal 21q sequences. However, a substantial portion of proximal 21q is deleted. The distal boundary of this deleted section can be pinpointed within the region between two loci (D21S8 and D21S54), a distance of about 5,000 kb. This study illustrates the power of using precisely mapped, linearly ordered DNA probes to characterize this type of rearrangement. In addition, this hybrid cell line can also be used as a member of a mapping panel to map DNA sequences regionally on chromosome 21.en_US
dc.format.extent692848 bytes
dc.format.extent3118 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherLife and Medical Sciencesen_US
dc.subject.otherGeneticsen_US
dc.titleCharacterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probesen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.subject.hlbtoplevelScienceen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Pediatrics and Communicable Diseases, University of Michigan and Howard Hughes Medical Institute, Ann Arbor, Michigan ; Howard Hughes Medical Institute, 1150 W. Medical Center Dr., MSRB I, Room 3520, Ann Arbor, MI 48109-0650en_US
dc.contributor.affiliationumDepartment of Pediatrics and Communicable Diseases, University of Michigan and Howard Hughes Medical Institute, Ann Arbor, Michiganen_US
dc.contributor.affiliationumDepartment of Pediatrics and Communicable Diseases, University of Michigan and Howard Hughes Medical Institute, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan Medical Center, Ann Arbor, Michiganen_US
dc.contributor.affiliationotherCytogenetics Laboratory, Children's Hospital and Medical Center, Seattleen_US
dc.contributor.affiliationotherGenetics Division, The Children's Hospital, Harvard Medical School, Bostonen_US
dc.contributor.affiliationotherIntegrated Genetics, Inc., Framingham, Massachusettsen_US
dc.contributor.affiliationotherNeurogenetics Laboratory, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Bostonen_US
dc.contributor.affiliationotherNeurogenetics Laboratory, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Bostonen_US
dc.contributor.affiliationotherThe Eleanor Roosevelt Institute for Cancer Research and Departments of Biochemistry, Biophysics and Chemistry, and of Medicine, University of Colorado Health Sciences Center, Denveren_US
dc.identifier.pmid2529766en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/38249/1/1320330316_ftp.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1002/ajmg.1320330316en_US
dc.identifier.sourceAmerican Journal of Medical Geneticsen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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