VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations
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چکیده
منابع مشابه
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.
Copy number variations (CNVs), either DNA gains or losses, have been found at common regions throughout the human genome. Most CNVs neither have a pathogenic significance nor result in disease-related phenotypes but, instead, reflect the normal population variance. However, larger CNVs, which often arise de novo, are frequently associated with human disease. A genetic contribution has long been...
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We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics...
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Background De novo copy number variation (CNV) can occur constitutionally in gametogenesis or in early development leading to sporadic genomic disorders. Such de novo CNVs appear to also be important in somatic mutagenesis relevant to cancer and population events important to species evolution. Since large pathological CNVs are rarely observed at more than one locus in a single patient, and are...
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To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied genomic copy-number variation in a large cohort of families with a single affected child and at least one unaffected sibling. We confirm a major contribution from de novo deletions and duplications but also find evidence of a role for inherited "ultrarare" duplications. Our results show that, relative to ...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2012
ISSN: 1661-8777,1661-8769
DOI: 10.1159/000345577