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Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA (1977)

Abstract

In 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.. Peer Reviewed. http://deepblue.lib.umich.edu/bitstream/2027.42/47604/1/439_2004_Article_BF00390432.pdf

Publication details

Download	, http://hdl.handle.net/2027.42/47604 http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=870409&dopt=citation
Publisher	Springer-Verlag
Contributors	Department of Pediatrics and Communicable Diseases, The University of Michigan Medical School, 48 109, Ann Arbor, Michigan, USA, Department of Human Genetics, The University of Michigan Medical School, 48 109, Ann Arbor, Michigan, USA, Department of Pediatrics and Communicable Diseases, The University of Michigan Medical School, 48 109, Ann Arbor, Michigan, USA, Department of Human Genetics, The University of Michigan Medical School, 48 109, Ann Arbor, Michigan, USA, Department of Pediatrics and Communicable Diseases, The University of Michigan Medical School, 48 109, Ann Arbor, Michigan, USA, Department of Genetics and Development, University of Illinois, 61 801, Urbana, Illinois, USA, Ann Arbor
Repository	University of Michigan (United States)
Keywords	Human Genetics, Biomedicine, Internal Medicine, Metabolic Diseases, Molecular Medicine, Molecular, Cellular and Developmental Biology, Genetics, Biological Chemistry, Science, Health Sciences
Type	Original Investigations
Language	English