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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2010-2-1
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pubmed:abstractText |
Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2-year-old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a approximately 520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL.
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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:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1552-4833
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2010 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
152A
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
479-83
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:20101707-Adenylate Cyclase,
pubmed-meshheading:20101707-Adult,
pubmed-meshheading:20101707-Agenesis of Corpus Callosum,
pubmed-meshheading:20101707-Arnold-Chiari Malformation,
pubmed-meshheading:20101707-CREB-Binding Protein,
pubmed-meshheading:20101707-Chromosomes, Human, Pair 16,
pubmed-meshheading:20101707-Comparative Genomic Hybridization,
pubmed-meshheading:20101707-Corpus Callosum,
pubmed-meshheading:20101707-Cytogenetics,
pubmed-meshheading:20101707-Female,
pubmed-meshheading:20101707-Gene Deletion,
pubmed-meshheading:20101707-Humans,
pubmed-meshheading:20101707-Infant,
pubmed-meshheading:20101707-Magnetic Resonance Imaging,
pubmed-meshheading:20101707-Male,
pubmed-meshheading:20101707-Membrane Proteins,
pubmed-meshheading:20101707-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:20101707-Rubinstein-Taybi Syndrome,
pubmed-meshheading:20101707-Syndrome
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pubmed:year |
2010
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pubmed:articleTitle |
Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?
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pubmed:affiliation |
Family Medicine Residency Program, Deaconess Hospital, Evansville, Indiana, USA. cwojcik@iupui.edu
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pubmed:publicationType |
Journal Article,
Case Reports
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