Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation
作者： Mehmet Seven , Birsen Karaman , Seniha Hacihanefioglu , Ayhan Deviren , Adnan Yuksel
DOI: 10.1097/00019605-200201000-00008
关键词: Chromosomal translocation 、 Chromosome abnormality 、 Trisomy 、 Hypertelorism 、 Medicine 、 Low-set ears 、 Chromosome 17 (human) 、 Pathology 、 Neuroblastoma 、 Microcephaly
摘要: A 1-year-old female child with multiple dysmorphic features including microcephaly, hypertelorism, a short philtrum, low set ears, narrow high arched palate, micrognathia and growth retardation was found to have de novo chromosome abnormality partial duplication of the arm 2 deletion long 17. The clinical case shared many similarities previous reports trisomy 2p. Three years later, ecchymotic spots appeared around left ocular region. Further pathological examination confirmed diagnosis neuroblastoma. This is first an unbalanced translocation, 46, XX, der (17), t (2; 17) (p23; q25), showing development neuroblastoma in addition features. We suggest that 2p N-myc proto-oncogene may predisposed patient
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