一例伴有单一染色体异常的小脑髓母细胞瘤。

A case of cerebellar medulloblastoma with a single chromosome abnormality.

作者信息

Stratton M R, Darling J, Cooper C S, Reeves B R

机构信息

Department of Neuropathology, Institute of Psychiatry, London, England.

出版信息

Cancer Genet Cytogenet. 1991 May;53(1):101-3. doi: 10.1016/0165-4608(91)90120-j.

DOI:10.1016/0165-4608(91)90120-j

PMID:2036631

Abstract

In the few published karyotypes of human medulloblastoma, multiple chromosome abnormalities have usually been demonstrated. We report a case of medulloblastoma in which only a single structural alteration was observed, namely an unbalanced translocation between chromosomes 1 and 6 resulting in partial 1q trisomy and partial 6q mónosomy. This finding may help define genomic regions that are of importance in development of medulloblastoma.

摘要

在已发表的少数人类髓母细胞瘤核型分析中，通常显示出多种染色体异常。我们报告了一例髓母细胞瘤病例，其中仅观察到一种结构改变，即1号和6号染色体之间的不平衡易位，导致部分1q三体和部分6q单体。这一发现可能有助于确定在髓母细胞瘤发生过程中起重要作用的基因组区域。