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

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genomic variations and chromosomal abnormalities
• Share to Neuroblastoma Research and Treatments
• Share to Virus-based gene therapy research