Comment
doi: 10.1016/j.ejmg.2009.02.005.
Epub 2009 Feb 25.
Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype
- PMID: 19248844
- DOI: 10.1016/j.ejmg.2009.02.005
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Comment
Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype
Eur J Med Genet.
2009 Jul-Aug.
Abstract
Bergman et al. performed a search for exon copy number alterations in the CHD7 gene using MLPA in CHARGE syndrome patients who did not have a CHD7 mutation. Based on their results they recommended to extend testing using MLPA solely in individuals with a typical CHARGE syndrome phenotype. However, since we have found deletions comprising the CHD7 gene in three patients with a less typical phenotype we recommend performing MLPA testing in all CHARGE syndrome patients without causal CHD7 mutations.
Comment on
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Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.Eur J Med Genet. 2008 Sep-Oct;51(5):417-25. doi: 10.1016/j.ejmg.2008.03.003. Epub 2008 Apr 4. Eur J Med Genet. 2008. PMID: 18472328
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