Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

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...

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Main Authors: Menten, Björn, Buysse, Karen, Vermeulen, Stefan, Meersschaut, Valerie, Vandesompele, Jo, Ng, Bee L., P.Carter, Nigel, Mortier, Geert R., Speleman, Frank
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2688819/
https://ncbi.nlm.nih.gov/pubmed/17845870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2007.07.003
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