title: Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation.
abstract: 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 appeared around the left ocular region. Further clinical and pathological examination confirmed the diagnosis of a neuroblastoma. This is the first case of an unbalanced translocation, 46, XX, der (17), t (2; 17) (p23; q25), showing the development of a neuroblastoma in addition to the dysmorphic features. We suggest that trisomy 2p including the N-myc proto-oncogene may have predisposed the patient to the development of a neuroblastoma.
authors.affiliation: Genetic and Teratology Research Center (GETAM), Cerrahpaş Medical Faculty, Istanbul University, Turkey. mehseven@istanbul.edu.tr
authors.forename: Adnan
authors.initials: A
authors.lastname: Yuksel
authors.forename: Mehmet
authors.initials: M
authors.lastname: Seven
authors.forename: Birsen
authors.initials: B
authors.lastname: Karaman
authors.forename: Sukriye
authors.initials: S
authors.lastname: Yilmaz
authors.forename: Ayhan
authors.initials: A
authors.lastname: Deviren
authors.forename: Seniha
authors.initials: S
authors.lastname: Hacihanefioglu
authors.forename: Seher
authors.initials: S
authors.lastname: Basaran
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D002889:Chromosomes, Human, Pair 2; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D009447:Neuroblastoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000090063:Proto-Oncogene Mas; D014178:Translocation, Genetic