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血液系统疾病中20号染色体长臂缺失(del(20q))的临床意义。

Clinical significance of the del(20q) chromosome in hematologic disorders.

作者信息

Aatola M, Armstrong E, Teerenhovi L, Borgström G H

机构信息

Department of Medical Genetics, University of Helsinki, Finland.

出版信息

Cancer Genet Cytogenet. 1992 Aug;62(1):75-80. doi: 10.1016/0165-4608(92)90043-8.

Abstract

Patients with hematologic neoplasias often have chromosomal aberrations in the cells of their bone marrow or unstimulated blood. One recurrent abnormality is a deletion of the long arm of chromosome 20, primarily described in polycythemia vera, but later seen in a range of hematologic disorders. We have studied 32 patients with del(20q) as the sole chromosomal aberration, investigating significance of this aberration for the clinical diagnoses, hematologic parameters, and prognoses within this patient group. According to our results, del(20q) is primarily associated with myeloid disorders, but it is not specific for any certain disease, nor does the proportion of cells with del(20q) correlate with prognosis.

摘要

血液系统肿瘤患者的骨髓细胞或未受刺激的血液细胞中常出现染色体畸变。一种常见的异常是20号染色体长臂缺失,最初在真性红细胞增多症中被描述,后来在一系列血液系统疾病中也有发现。我们研究了32例以del(20q)作为唯一染色体畸变的患者,探讨了这种畸变对该患者群体临床诊断、血液学参数和预后的意义。根据我们的结果,del(20q)主要与髓系疾病相关,但它并非任何特定疾病所特有,而且具有del(20q)的细胞比例与预后也不相关。

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