| Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray. | |
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MedLine Citation:
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PMID: 20434696 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a single case of a young man with multiple congenital anomalies. For years, a unifying diagnosis could not be made. As his case developed, more clues came to light, but still no recognizable pattern could be identified. Ultimately, the combination of orofacial clefting, neurosensory hearing loss, choroideremia, and cognitive delays were shown to be due to an Xq21 [corrected] micro-deletion as seen on comparative genomic hybridizations studies. A review of the genes contained in this region clearly explain his constellation of findings. |
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Authors:
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Eric T Rush; G Bradley Schaefer |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Seminars in pediatric neurology Volume: 17 ISSN: 1558-0776 ISO Abbreviation: Semin Pediatr Neurol Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-05-03 Completed Date: 2010-07-28 Revised Date: 2011-07-05 |
Medline Journal Info:
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Nlm Unique ID: 9441351 Medline TA: Semin Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 51-3 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
genetics* Adolescent Brain / pathology Comparative Genomic Hybridization* Connexins / genetics Developmental Disabilities / genetics Genetic Diseases, X-Linked / diagnosis*, genetics* Glucose Transporter Type 4 / genetics Hearing Loss / genetics Humans Magnetic Resonance Imaging Male Mutation / genetics Sequence Deletion / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Connexins; 0/Glucose Transporter Type 4; 127120-53-0/connexin 26 |
| Comments/Corrections | |
Erratum In:
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Semin Pediatr Neurol. 2011 Mar;18(1):56 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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