通过多色荧光原位杂交和多色显带技术揭示血液系统恶性肿瘤中Xq27-qter的反复重复。

Recurrent duplication of Xq27-qter in hematological malignancies revealed by multicolor fluorescence in situ hybridization and multicolor banding.

作者信息

MacKinnon Ruth N, Zordan Adrian, Campbell Lynda J

机构信息

University of Melbourne Department of Medicine, St Vincent's Hospital, Melbourne, Victoria, Australia.

出版信息

Cancer Genet Cytogenet. 2005 Sep;161(2):125-9. doi: 10.1016/j.cancergencyto.2005.02.005.

DOI:10.1016/j.cancergencyto.2005.02.005

PMID:16102582

Abstract

Multicolor fluorescence in situ hybridization (M-FISH) experiments were performed to determine the composition of abnormal complex karyotypes in 15 cases of hematological malignancy. Four cases were found to have unsuspected unbalanced X chromosome translocations, which resulted in the presence of extra X chromosome material. We determined the identity of the duplicated chromosome regions using the multicolor banding (mBAND) technique. Xq27-qter was duplicated in three of the four male cases with an X chromosome abnormality (i.e., in one third of male cases and one fifth of all cases). These preliminary results may point to the existence of a recurrent chromosome abnormality, either translocation at a specific Xq27 locus or duplication of Xq27-qter.

摘要

进行了多色荧光原位杂交（M-FISH）实验，以确定15例血液系统恶性肿瘤中异常复杂核型的组成。发现4例存在未被怀疑的X染色体不平衡易位，导致额外X染色体物质的出现。我们使用多色显带（mBAND）技术确定了重复染色体区域的身份。在4例有X染色体异常的男性病例中，有3例Xq27-qter发生了重复（即占男性病例的三分之一，占所有病例的五分之一）。这些初步结果可能表明存在一种复发性染色体异常，要么是在特定Xq27位点发生易位，要么是Xq27-qter重复。