| Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome? | |
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MedLine Citation:
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PMID: 20101707 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Cezary W?jcik; Kim Volz; Maria Ranola; Karla Kitch; Tariza Karim; Joseph O'Neil; Jodi Smith; Wilfredo Torres-Martinez |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-02-01 Completed Date: 2010-04-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 479-83 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Wiley-Liss, Inc. |
Affiliation:
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Family Medicine Residency Program, Deaconess Hospital, Evansville, Indiana, USA. cwojcik@iupui.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adenylate Cyclase
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genetics Adult Arnold-Chiari Malformation / complications, genetics* CREB-Binding Protein / genetics Chromosomes, Human, Pair 16* Comparative Genomic Hybridization Corpus Callosum / abnormalities, pathology Cytogenetics Female Gene Deletion* Humans Infant Magnetic Resonance Imaging / methods Male Membrane Proteins / genetics Oligonucleotide Array Sequence Analysis Rubinstein-Taybi Syndrome / complications, genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Membrane Proteins; 126469-70-3/sarcalumenin; EC 2.3.1.48/CREB-Binding Protein; EC 4.6.1.1/Adenylate Cyclase; EC 4.6.1.1/adenylate cyclase 9 |
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