@article{ Mentena,
  author = {Björn Menten and Karen Buysse and Stefan J T Vermeulen and Valerie Meersschaut and Jo Vandesompele and Bee L Ng and Nigel P Carter and Geert Mortier and Frank Speleman},
  title = {Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.},
  journal = {European journal of medical genetics},
  abstract = {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.},
  issn = {1769-7212},
  pages = {446--54},
  volume = {50},
  number = {6},
  url = {http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2688819&tool=pmcentrez&rendertype=abstract}
}

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