|
rdf:type |
|
|
lifeskim:mentions |
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|
pubmed:issue |
4
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pubmed:dateCreated |
1992-6-18
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|
pubmed:abstractText |
We report the first case of an interstitial deletion of the distal long arm of chromosome 4 (q31.22----q34.2). The major clinical features are described and compared to those of other published reports of del 4q, mainly those sharing a common deleted segment with the present case (both interstitial and terminal). This comparison suggests that the characteristic phenotype attributed to terminal deletions of 4q31----qter probably mainly results from loss of the segment q31----q33-34.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
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|
pubmed:month |
Apr
|
|
pubmed:issn |
0022-2593
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|
pubmed:author |
|
|
pubmed:issnType |
Print
|
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pubmed:volume |
29
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
259-61
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|
pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:1583648-Abnormalities, Multiple,
pubmed-meshheading:1583648-Chromosome Deletion,
pubmed-meshheading:1583648-Chromosomes, Human, Pair 4,
pubmed-meshheading:1583648-Facial Bones,
pubmed-meshheading:1583648-Female,
pubmed-meshheading:1583648-Heart Defects, Congenital,
pubmed-meshheading:1583648-Humans,
pubmed-meshheading:1583648-Infant,
pubmed-meshheading:1583648-Karyotyping,
pubmed-meshheading:1583648-Skull
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|
pubmed:year |
1992
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|
pubmed:articleTitle |
Interstitial deletion of the distal long arm of chromosome 4.
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|
pubmed:affiliation |
Department of Pediatrics and Medical Genetics, University of Montpellier, Hôpital Saint-Charles, France.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
