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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1993-7-1
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pubmed:abstractText |
We report the investigation of an unusual human supernumerary marker chromosome 10 designated "mar del(10)." This marker is present together with two other marker chromosomes in the karyotype of a boy with mild developmental delay. It has a functional centromere at a primary constriction and is mitotically stable. Fluorescence in situ hybridization (FISH) using alpha-satellite and satellite III DNA as probes failed to detect any signal at the primary constriction site. CENP-B protein could not be demonstrated, although the presence of at least some centromeric proteins was confirmed using a CREST antiserum. Consideration of these and other cytogenetic and FISH results supports a mechanism of formation of the mar del(10) chromosome involving the activation of a latent intercalary centromere at 10q25.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-112030,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-1302610,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-1302611,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-1424236,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-1433228,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-1505032,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-1542662,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-1550116,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-1654558,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-1740467,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-1971806,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-2030938,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-2193435,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-2216757,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-2808515,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-2820675,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-2982722,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-2996845,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-3224978,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-3458254,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-3469648,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-3476456,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-3701863,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-4040175,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-456039,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-639625,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684888-7063861
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Antibodies,
http://linkedlifedata.com/resource/pubmed/chemical/Autoantigens,
http://linkedlifedata.com/resource/pubmed/chemical/CENPB protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Centromere Protein B,
http://linkedlifedata.com/resource/pubmed/chemical/Chromosomal Proteins, Non-Histone,
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Satellite,
http://linkedlifedata.com/resource/pubmed/chemical/DNA Probes,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1153-63
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:7684888-Antibodies,
pubmed-meshheading:7684888-Autoantigens,
pubmed-meshheading:7684888-Cells, Cultured,
pubmed-meshheading:7684888-Centromere,
pubmed-meshheading:7684888-Centromere Protein B,
pubmed-meshheading:7684888-Child, Preschool,
pubmed-meshheading:7684888-Chromosomal Proteins, Non-Histone,
pubmed-meshheading:7684888-Chromosomes, Human, Pair 10,
pubmed-meshheading:7684888-DNA, Satellite,
pubmed-meshheading:7684888-DNA Probes,
pubmed-meshheading:7684888-DNA-Binding Proteins,
pubmed-meshheading:7684888-Developmental Disabilities,
pubmed-meshheading:7684888-Humans,
pubmed-meshheading:7684888-In Situ Hybridization, Fluorescence,
pubmed-meshheading:7684888-Karyotyping,
pubmed-meshheading:7684888-Male,
pubmed-meshheading:7684888-Monosomy
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pubmed:year |
1993
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pubmed:articleTitle |
A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere?
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pubmed:affiliation |
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Victoria, Australia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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