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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1996-10-22
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pubmed:abstractText |
We describe the first case of maternal uniparental disomy (UPD) of chromosome 9 in a fetus who was shown to have mosaic trisomy 9 in a chorionic villus sample. Karyotyping and molecular studies following termination of the pregnancy confirmed mosaicism in the placenta and maternal UPD(9) in the fetal tissues. This case demonstrates that the mechanism of trisomy correction may result in a fetus with UPD(9).
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pubmed:grant |
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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 |
Apr
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pubmed:issn |
0197-3851
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
16
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
371-4
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pubmed:dateRevised |
2009-9-29
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pubmed:meshHeading |
pubmed-meshheading:8734817-Abortion, Induced,
pubmed-meshheading:8734817-Adult,
pubmed-meshheading:8734817-Chorionic Villi Sampling,
pubmed-meshheading:8734817-Chromosomes, Human, Pair 9,
pubmed-meshheading:8734817-Cytogenetics,
pubmed-meshheading:8734817-Female,
pubmed-meshheading:8734817-Genomic Imprinting,
pubmed-meshheading:8734817-Humans,
pubmed-meshheading:8734817-In Situ Hybridization, Fluorescence,
pubmed-meshheading:8734817-Karyotyping,
pubmed-meshheading:8734817-Molecular Biology,
pubmed-meshheading:8734817-Mosaicism,
pubmed-meshheading:8734817-Placenta,
pubmed-meshheading:8734817-Polymerase Chain Reaction,
pubmed-meshheading:8734817-Pregnancy,
pubmed-meshheading:8734817-Trisomy
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pubmed:year |
1996
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pubmed:articleTitle |
A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9.
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pubmed:affiliation |
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, U.K.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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