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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1987-3-5
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pubmed:abstractText |
A new case of total monosomy 21 in a newborn is described. The diagnosis was first made using the cytogenetic data; it was then confirmed by the dosage of copper-superoxide dismutase (SOD-1) which showed a 50% decrease. In situ hybridization with a probe previously assigned to chromosome 21 was used to rule out the possibility of a partial monosomy with an unbalanced reciprocal translocation.
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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:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0340-6717
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
75
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
95-6
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:3804338-Chromosome Deletion,
pubmed-meshheading:3804338-Chromosomes, Human, Pair 21,
pubmed-meshheading:3804338-Female,
pubmed-meshheading:3804338-Humans,
pubmed-meshheading:3804338-Infant, Newborn,
pubmed-meshheading:3804338-Karyotyping,
pubmed-meshheading:3804338-Monosomy,
pubmed-meshheading:3804338-Nucleic Acid Hybridization
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pubmed:year |
1987
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pubmed:articleTitle |
Monosomy 21: a new case confirmed by in situ hybridization.
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pubmed:publicationType |
Journal Article,
Case Reports
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