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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 |
2001-5-4
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pubmed:abstractText |
A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are "pure" duplications from those with accompanying monosomy for another chromosome suggests that a cleft palate may not be attributable to the duplicated segment.
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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 |
0148-7299
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2001 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
100
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
13-24
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pubmed:dateRevised |
2005-11-16
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pubmed:meshHeading |
pubmed-meshheading:11337743-Adolescent,
pubmed-meshheading:11337743-Adult,
pubmed-meshheading:11337743-Child,
pubmed-meshheading:11337743-Child, Preschool,
pubmed-meshheading:11337743-Chromosome Aberrations,
pubmed-meshheading:11337743-Chromosome Banding,
pubmed-meshheading:11337743-Chromosomes, Human, Pair 2,
pubmed-meshheading:11337743-Female,
pubmed-meshheading:11337743-Gene Duplication,
pubmed-meshheading:11337743-Humans,
pubmed-meshheading:11337743-Infant,
pubmed-meshheading:11337743-Infant, Newborn,
pubmed-meshheading:11337743-Male,
pubmed-meshheading:11337743-Middle Aged
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pubmed:year |
2001
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pubmed:articleTitle |
Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature.
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pubmed:affiliation |
Children's Hospital and Health Center, Division of Genetics/Dysmorphology, San Diego, California 92123, USA. lynnembird@aol.com
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pubmed:publicationType |
Journal Article,
Review,
Case Reports
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