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神经纤维瘤的细胞遗传学:两例报告及文献综述

Cytogenetics of neurofibromas: two case reports and literature review.

作者信息

Liu Kenian, DeAngelo Patricia, Mahmet Kathleen, Phytides Penny, Osborne Lisa, Pletcher Beth A

机构信息

Institute of Genomic Medicine, University of Medicine & Dentistry of New Jersey, 185 South Orange Avenue, MSB F665, Newark, NJ 07101, USA.

出版信息

Cancer Genet Cytogenet. 2010 Jan 1;196(1):93-5. doi: 10.1016/j.cancergencyto.2009.07.004.

Abstract

Only a few karyotypes of neurofibromas have been documented in the literature. In this report, we describe two new cases in which conventional cytogenetics demonstrated the presence of abnormal clones. Combining karyotypes of the nine previously reported cases, we found that the most frequent structural rearrangements involved chromosome 9p. Including the two cases reported here, 5/11 cases involved 9p, and four of these involved the 9p21 approximately p22 region.

摘要

文献中仅记载了少数神经纤维瘤的核型。在本报告中,我们描述了两例新病例,其中常规细胞遗传学显示存在异常克隆。综合之前报道的9例病例的核型,我们发现最常见的结构重排涉及9号染色体短臂。包括此处报道的两例病例在内,11例中有5例涉及9号染色体短臂,其中4例涉及9p21至p22区域。

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