| A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. | |
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MedLine Citation:
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PMID: 19772954 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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This report describes a 4 year-old girl with history of hypotonia, developmental delay, and failure to thrive in infancy. She has cognitive impairment and multiple congenital anomalies, including Duane anomaly, Mondini malformation with associated deafness, external ear malformations, and atrial and ventricular septal defects. Array comparative genomic hybridization demonstrated a de novo tandem 6.9 Mb duplication of at least 15 genes in chromosome 8q12, inclusive of CHD7, with breakpoints at 58,388,614 bp and 65,306,097 bp (NCBI build 36.1). Loss of CHD7 by microdeletion or intragenic mutation causes CHARGE syndrome. There is one previous report of an individual with microduplication of 8q12 involving CHD7. He also had early hypotonia, cognitive impairment, Duane anomaly, sensorineural deafness and a congenital heart defect. This rather specific recurrent pattern of congenital anomalies associated with overlapping duplications of the genomic region containing CHD7 suggests that the phenotype in these two patients may be the result of abnormal CHD7 dosage. |
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Authors:
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Anna M Lehman; Jan M Friedman; David Chai; Farah R Zahir; Marco A Marra; Larraine Prisman; Erica Tsang; Patrice Eydoux; Linlea Armstrong |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-09-17 |
Journal Detail:
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Title: European journal of medical genetics Volume: 52 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2009 Nov-Dec |
Date Detail:
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Created Date: 2009-11-09 Completed Date: 2010-02-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 436-9 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, University of British Columbia, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosome Aberrations* Chromosomes, Human, Pair 8* DNA Helicases / genetics* DNA-Binding Proteins / genetics* Female Humans In Situ Hybridization, Fluorescence Polymorphism, Single Nucleotide |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; EC 3.6.1.-/DNA Helicases; EC 5.99.-/CHD7 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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