A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

@inproceedings{Gimelli2013AR3,
  title={A rare 3q13.31 microdeletion including GAP43 and LSAMP genes},
  author={Stefania Gimelli and Massimiliano Leoni and M Di Rocco and Gianluca Caridi and Simona Porta and Cristina Cuoco and Giorgio Gimelli and Elisa Tassano},
  booktitle={Molecular Cytogenetics},
  year={2013}
}
Interstitial deletions affecting the proximal long arm of chromosome 3 have been rarely reported in the literature. The deleted segments vary in localization and size with different breakpoints making genotype-phenotype correlation very difficult. Until now, a girl with a 1.9-Mb interstitial deletion of 3q13.2q13.31 and 14 novel patients with deletions in 3q11q23 have been reported. Here we report on a 7-year-old girl with neuropsychiatric disorders and renal, vascular and skeletal anomalies… CONTINUE READING
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