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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 |
1994-10-27
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pubmed:abstractText |
This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karyotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that the marker chromosome consisted of chromosome 18 material in both cases.
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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 |
Jun
|
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pubmed:issn |
0009-9163
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
45
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
301-4
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pubmed:dateRevised |
2005-11-16
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pubmed:meshHeading |
pubmed-meshheading:7923860-Abnormalities, Multiple,
pubmed-meshheading:7923860-Aneuploidy,
pubmed-meshheading:7923860-Child,
pubmed-meshheading:7923860-Chromosome Aberrations,
pubmed-meshheading:7923860-Chromosome Banding,
pubmed-meshheading:7923860-Chromosome Disorders,
pubmed-meshheading:7923860-Chromosomes, Human, Pair 18,
pubmed-meshheading:7923860-Humans,
pubmed-meshheading:7923860-In Situ Hybridization, Fluorescence,
pubmed-meshheading:7923860-Infant,
pubmed-meshheading:7923860-Isochromosomes,
pubmed-meshheading:7923860-Male
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|
pubmed:year |
1994
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|
pubmed:articleTitle |
De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting.
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|
pubmed:affiliation |
Institut für Humangenetik und Anthropologie der Universität, Freiburg, FRG.
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pubmed:publicationType |
Journal Article,
Review,
Case Reports
|
