Source:http://linkedlifedata.com/resource/pubmed/id/10434124
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1999-9-1
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pubmed:abstractText |
Characterization of a partial trisomy 16 q with FISH: Report of a patient and literature review: We report on a 28-year-old male patient with severe growth and mental retardation, severe behavioural problems, especially automutilation, and a spastic quadriplegia. He showed no specific dysmorphism. The karyotype was 46, XY, dir dup(16) (q11.2-q13). The clinical and cytogenetical findings are compared with 3 previously reported cases with proximal duplication 16q.
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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:issn |
0003-3995
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
101-4
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:10434124-Adult,
pubmed-meshheading:10434124-Chromosomes, Human, Pair 16,
pubmed-meshheading:10434124-Growth Disorders,
pubmed-meshheading:10434124-Humans,
pubmed-meshheading:10434124-In Situ Hybridization, Fluorescence,
pubmed-meshheading:10434124-Intellectual Disability,
pubmed-meshheading:10434124-Male,
pubmed-meshheading:10434124-Trisomy
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pubmed:year |
1999
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pubmed:articleTitle |
Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.
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pubmed:affiliation |
Department of Molecular Cell Biology and Genetics, Maastricht University, The Netherlands.
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pubmed:publicationType |
Journal Article,
Review,
Case Reports
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