View Item 

Show simple item record

Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA
dc.contributor.authorMeilinger, Karen L.en_US
dc.contributor.authorKelch, Robert P.en_US
dc.contributor.authorWall, Patrick M.en_US
dc.contributor.authorSpeert, David P.en_US
dc.contributor.authorChu, Ernest H. Y.en_US
dc.contributor.authorSteffensen, Dale M.en_US
dc.date.accessioned2006-09-11T19:10:48Z
dc.date.available2006-09-11T19:10:48Z
dc.date.issued1977-01en_US
dc.identifier.citationSteffensen, Dale M.; Chu, Ernest H. Y.; Speert, David P.; Wall, Patrick M.; Meilinger, Karen; Kelch, Robert P.; (1977). "Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA." Human Genetics 36(1): 25-33. <http://hdl.handle.net/2027.42/47604>en_US
dc.identifier.issn0340-6717en_US
dc.identifier.issn1432-1203en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/47604
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=870409&dopt=citationen_US
dc.description.abstractIn a newborn boy with multiple malformations, a tandem duplication was detected at the distal end of the long arm of one human chromosome 1. The Giemsa bands, 1q31 to 1q43–44, were repeated serially. Since 5S rRNA genes are located at 1q42–43, in situ hybridization of 125 I 5S rRNA with fixed chromosome preparations was used to confirm the chromosomal duplication. The infant exhibited numerous developmental and clinical abnormalities as might be expected with an abnormality of chromosome structure relating to a ribosome component.en_US
dc.format.extent537604 bytes
dc.format.extent3115 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherSpringer-Verlagen_US
dc.subject.otherHuman Geneticsen_US
dc.subject.otherBiomedicineen_US
dc.subject.otherInternal Medicineen_US
dc.subject.otherMetabolic Diseasesen_US
dc.subject.otherMolecular Medicineen_US
dc.titlePartial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNAen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelMolecular, Cellular and Developmental Biologyen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbsecondlevelBiological Chemistryen_US
dc.subject.hlbtoplevelScienceen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Pediatrics and Communicable Diseases, The University of Michigan Medical School, 48 109, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationumDepartment of Human Genetics, The University of Michigan Medical School, 48 109, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationumDepartment of Pediatrics and Communicable Diseases, The University of Michigan Medical School, 48 109, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationumDepartment of Human Genetics, The University of Michigan Medical School, 48 109, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationumDepartment of Pediatrics and Communicable Diseases, The University of Michigan Medical School, 48 109, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationotherDepartment of Genetics and Development, University of Illinois, 61 801, Urbana, Illinois, USAen_US
dc.contributor.affiliationumcampusAnn Arboren_US
dc.identifier.pmid870409en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/47604/1/439_2004_Article_BF00390432.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1007/BF00390432en_US
dc.identifier.sourceHuman Geneticsen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


Files in this item

Name:
439_2004_Article_BF00390432.pdf
Size:
525.0KB
Format:
PDF
View/Open

Show simple item record

Remediation of Harmful Language

The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.

Accessibility

If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.