Source:http://linkedlifedata.com/resource/pubmed/id/20686492
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
11
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pubmed:dateCreated |
2010-11-25
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pubmed:abstractText |
Phenotypic variation in CHARGE syndrome remains unexplained. A subcategory of CHARGE patients show overlapping phenotypic characteristics with DiGeorge syndrome (thymic hypo/aplasia, hypocalcemia, T-cell immunodeficiency). Very few have been tested or reported to carry a mutation of the CHD7 (chromodomain helicase DNA-binding domain) gene detected in two-thirds of CHARGE patients. In an attempt to explore the genetic background of a severe CHARGE/DiGeorge phenotype, we performed comparative genomic array hybridization in an infant carrier of a CHD7 mutation. The high-resolution comparative genomic array hybridization revealed interesting findings, including a deletion distal to the DiGeorge region and disruptions in other chromosomal regions of genes implicated in immunological and other functions possibly contributing to the patient's severe phenotype and early death.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1435-232X
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pubmed:author |
pubmed-author:De LentdeckerP HPH,
pubmed-author:FryssiraHelenaH,
pubmed-author:GiannakopoulosAristeidisA,
pubmed-author:GiannikouKrinioK,
pubmed-author:KaliakatsosMariosM,
pubmed-author:KanariouMariaM,
pubmed-author:KanavakisEmmanuelE,
pubmed-author:MakrythanasisPeriklisP,
pubmed-author:SiahanidouTaniaT,
pubmed-author:TzetisMariaM
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pubmed:issnType |
Electronic
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pubmed:volume |
55
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
761-3
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pubmed:meshHeading |
pubmed-meshheading:20686492-CHARGE Syndrome,
pubmed-meshheading:20686492-Comparative Genomic Hybridization,
pubmed-meshheading:20686492-DNA Helicases,
pubmed-meshheading:20686492-DNA-Binding Proteins,
pubmed-meshheading:20686492-DiGeorge Syndrome,
pubmed-meshheading:20686492-Fatal Outcome,
pubmed-meshheading:20686492-Humans,
pubmed-meshheading:20686492-Infant,
pubmed-meshheading:20686492-Male,
pubmed-meshheading:20686492-Mutation,
pubmed-meshheading:20686492-Phenotype,
pubmed-meshheading:20686492-Proteins,
pubmed-meshheading:20686492-Sequence Deletion,
pubmed-meshheading:20686492-Severe Combined Immunodeficiency
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pubmed:year |
2010
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pubmed:articleTitle |
Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.
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pubmed:affiliation |
Neonatal Unit, First Department of Pediatrics, Medical School, University of Athens, Athens, Greece.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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