Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.

@article{Bartsch2007TwoIC,
  title={Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.},
  author={Oliver Bartsch and Zdeňka Vl{\vc}kov{\'a} and Fikret Erdogan and Reinhard Ullmann and Drahuse Novotn{\'a} and Miriam Spiegel and Vera Beyer and Thomas Haaf and Ulrich Zechner and Eva Seemanov{\'a}},
  journal={Cytogenetic and genome research},
  year={2007},
  volume={119 1-2},
  pages={158-64}
}
Most patients with neurofibromatosis (NF1) are endowed with heterozygous mutations in the NF1 gene. Approximately 5% show an interstitial deletion of chromosome 17q11.2 (including NF1) and in most cases also a more severe phenotype. Here we report on a 7-year-old girl with classical NF1 signs, and in addition mild overgrowth (97th percentile), relatively low OFC (10th-25th percentile), facial dysmorphy, hoarse voice, and developmental delay. FISH analysis revealed a 17q11.2 microdeletion as… CONTINUE READING

Similar Papers

Loading similar papers…