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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 |
2007-6-15
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pubmed:abstractText |
We describe the analysis of an apparently balanced inherited reciprocal translocation in a fetus presenting with multiple congenital abnormalities, characterize the structural chromosome rearrangement, and report an unexpected additional imbalance to the inherited rearrangement.
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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:issn |
1421-9964
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pubmed:author |
pubmed-author:BenkhalifaMM,
pubmed-author:BenzackenBB,
pubmed-author:DelahayeAA,
pubmed-author:Encha-RazaviFF,
pubmed-author:Gérard-BlanluetMM,
pubmed-author:KanafaniSS,
pubmed-author:KasakyanSS,
pubmed-author:PipirasEE,
pubmed-author:SereroSS,
pubmed-author:SinicoMM,
pubmed-author:TouboulCC,
pubmed-author:VEGAAA,
pubmed-author:VergnaudAA
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pubmed:copyrightInfo |
Copyright (c) 2007 S. Karger AG, Basel.
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pubmed:issnType |
Electronic
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
306-12
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pubmed:meshHeading |
pubmed-meshheading:17361086-Abnormalities, Multiple,
pubmed-meshheading:17361086-Abortion, Induced,
pubmed-meshheading:17361086-Adult,
pubmed-meshheading:17361086-Allelic Imbalance,
pubmed-meshheading:17361086-Brain,
pubmed-meshheading:17361086-Chromosome Painting,
pubmed-meshheading:17361086-Cranial Fossa, Posterior,
pubmed-meshheading:17361086-Cytogenetic Analysis,
pubmed-meshheading:17361086-Female,
pubmed-meshheading:17361086-Gene Deletion,
pubmed-meshheading:17361086-Heart Defects, Congenital,
pubmed-meshheading:17361086-Humans,
pubmed-meshheading:17361086-Karyotyping,
pubmed-meshheading:17361086-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:17361086-Pregnancy,
pubmed-meshheading:17361086-Prenatal Diagnosis,
pubmed-meshheading:17361086-Telomere,
pubmed-meshheading:17361086-Translocation, Genetic,
pubmed-meshheading:17361086-Ultrasonography, Prenatal
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pubmed:year |
2007
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pubmed:articleTitle |
De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation.
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pubmed:affiliation |
Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, AP-HP, Bondy, France.
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pubmed:publicationType |
Journal Article
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