Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

By array-CGH, we identified a cryptic deletion of about 3.4 Mb involving the chromosomal region 11q13.2q13.4 in a child with speech and developmental delay. Highly homologous segmental duplications related to the well-known olfactory receptor (OR)-containing clusters at 8p and 4p are located at the...

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Main Authors: Wischmeijer, A., Magini, P., Giorda, R., Gnoli, M., Ciccone, R., Cecconi, I., Franzoni, E., Mazzanti, L., Romeo, G., Zuffardi, O., Seri, M.
格式: Artigo
語言:Inglês
出版: S. Karger AG 2011
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Original Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3042121/
https://ncbi.nlm.nih.gov/pubmed/21373257
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000322054
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