A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations

@article{CrdovaFletes2015ADN,
  title={A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations},
  author={Carlos C{\'o}rdova-Fletes and Mar{\'i}a Guadalupe Dom{\'i}nguez and Ilse Delint-Ram{\'i}rez and Herminia Martinez-Rodriguez and Ana Mar{\'i}a Rivas-Estilla and Patricio Barros-N{\'u}{\~n}ez and Roc{\'i}o Ort{\'i}z-L{\'o}pez and Vivian Alejandra Neira},
  journal={neurogenetics},
  year={2015},
  volume={16},
  pages={287-298}
}
We report a girl with intellectual disability (ID), neuropsychiatric alterations, and a de novo balanced t(10;19)(q22.3;q13.33) translocation. After chromosome sorting, fine mapping of breakpoints by array painting disclosed disruptions of the zinc finger, MIZ-type containing 1 (ZMIZ1) (on chr10) and proline-rich 12 (PRR12) (on chr19) genes. cDNA analyses revealed that the translocation resulted in gene fusions. The resulting hybrid transcripts predict mRNA decay or, if translated, formation of… 
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