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Title
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Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the **OPHN1** gene on Xq12
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Author
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Abstract
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| We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mapped and sequenced both breakpoints. The Xq12 breakpoint was located within the gene coding for oligophrenin 1 (OPHN1) whereas the 9p13.3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband. |
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Language
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English
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Source (journal)
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European journal of medical genetics. - Paris
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Publication
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Paris
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2007
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ISSN
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1769-7212
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DOI
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10.1016/J.EJMG.2007.07.003
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Volume/pages
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50
:6
(2007)
, p. 446-454
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ISI
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000251999800006
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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