Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2

@inproceedings{Moralli2015LanguageII,
  title={Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2},
  author={Daniela Moralli and Ron Nudel and May T. M. Chan and Catherine Green and Emanuela Valeria Volpi and Antonio Ben{\'i}tez-Burraco and Dianne F. Newbury and Paloma Garc{\'i}a-Bellido},
  booktitle={Molecular Cytogenetics},
  year={2015}
}
We report on a young female, who presents with a severe speech and language disorder and a balanced de novo complex chromosomal rearrangement, likely to have resulted from a chromosome 7 pericentromeric inversion, followed by a chromosome 7 and 11 translocation. Using molecular cytogenetics, we mapped the four breakpoints to 7p21.1-15.3 (chromosome position: 20,954,043-21,001,537, hg19), 7q31 (chromosome position: 114,528,369-114,556,605, hg19), 7q21.3 (chromosome position: 93,884,065-93,933… CONTINUE READING

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