Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.

@article{Petriczko2012FamilialDM,
  title={Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.},
  author={Elzibieta Petriczko and Agnieszka Biczysko-Mokosa and Joanna Bogdanowicz and Maria Constantinou and Elzbieta Zdziennicka and Anita Horodnicka-J{\'o}zwa and Ewa Barg and Sylwia Gawlik-Zawislak and Anna Sulek-Piatkowska and Grażyna Dawid and Mieczysław Walczak and Karolina A. Pesz and Andrzej W Kedzia and Stanislaw Zajączek},
  journal={American journal of medical genetics. Part A},
  year={2012},
  volume={158A 6},
  pages={1442-6}
}
We present a boy diagnosed with partial 3p monosomy and partial 4q trisomy. The patient was 9 years of age with intellectual disability, dysmorphic features, and ataxia. A family history and medical evaluation showed that the father manifested similar facial dysmorphic features, intellectual disability, quadriparesis, and progressive cerebrospinal ataxia… CONTINUE READING