Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation.

@article{Yuksel2002NeuroblastomaIA,
  title={Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation.},
  author={Adnan Yuksel and Mehmet Seven and Birsen Karaman and Sukriye Yilmaz and Ayhan Deviren and Seniha Hacihanefioğlu and Seher Başaran},
  journal={Clinical dysmorphology},
  year={2002},
  volume={11 1},
  pages={39-42}
}
A 1-year-old female child with multiple dysmorphic features including microcephaly, hypertelorism, a short philtrum, low set ears, a narrow high arched palate, micrognathia and growth retardation was found to have a de novo chromosome abnormality including a partial duplication of the short arm of chromosome 2 and a partial deletion of the long arm of chromosome 17. The clinical features of the case shared many similarities to previous reports of trisomy 2p. Three years later, ecchymotic spots… CONTINUE READING