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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
|
pubmed:dateCreated |
1977-10-20
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pubmed:abstractText |
A 3-year-old boy with partial No. 9 tetrasomy is described. The patient showed markedly retarded physical and mental development as well as multiple congenital anomalies. Routine chromosome analysis revealed an extra C-group chromosome. It had a pronounced secondary constriction at the proximal part of its long arm. Based on studies by a variety of banding techniques, the extra chromosome was identified to be an iso-dicentric No. 9 chromosome with inactivation of one of the two centromeres, the karyotype being 47,XY, + DIC (9)(Q2101). The value of BrdUrd treatment was emphasized in the detection of a very small piece of euchromatin within a long stretch of constitutive heterochromatin.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0003-3995
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
111-4
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:302683-Abnormalities, Multiple,
pubmed-meshheading:302683-Chromosome Aberrations,
pubmed-meshheading:302683-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:302683-Humans,
pubmed-meshheading:302683-Infant,
pubmed-meshheading:302683-Infant, Newborn,
pubmed-meshheading:302683-Intellectual Disability,
pubmed-meshheading:302683-Male
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pubmed:year |
1977
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pubmed:articleTitle |
Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome.
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pubmed:publicationType |
Journal Article,
Case Reports
|