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Literature DB >> 9391895

Germline duplication of chromosome 2p and neuroblastoma.

J S Patel¹, J Pearson, L Willatt, T Andrews, R Beach, A Green.

Abstract

A child with a germline duplication of chromosome 2p, 46,XY,der(13)t(2;13)(p23;q34), who developed a fatal neuroblastoma confirmed at necropsy is reported. Fluorescent in situ hybridisation studies showed chromosome 2p (p23-pter) duplicated on chromosome 13 (q34). The clinical features of the present case shared many similarities to previous reports of trisomy 2p and there have been two cases described with neuroblastoma. Germline duplication of chromosome 2p including the N-myc proto-oncogene may have pre-disposed to the development of neuroblastoma in this case.

Entities: Disease Gene Species

Mesh：

Year: 1997 PMID： 9391895 PMCID： PMC1051129 DOI： 10.1136/jmg.34.11.949

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

17 in total

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3 in total

Review 1. Neuroblastoma tumour genetics: clinical and biological aspects.

Authors: N Bown
Journal: J Clin Pathol Date: 2001-12 Impact factor: 3.411

Review 2. Chromosome Imbalances in Neuroblastoma-Recent Molecular Insight into Chromosome 1p-deletion, 2p-gain, and 11q-deletion Identifies New Friends and Foes for the Future.

Authors: Jikui Guan; Bengt Hallberg; Ruth H Palmer
Journal: Cancers (Basel) Date: 2021-11-24 Impact factor: 6.639

3. On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma.

Authors: Beata S Lipska; Magdalena Koczkowska; Jolanta Wierzba; Anna Ploszynska; Mariola Iliszko; Ewa Izycka-Swieszewska; Elzbieta Adamkiewicz-Drozynska; Janusz Limon
Journal: Mol Cytogenet Date: 2013-10-16 Impact factor: 2.009

3 in total