范可尼贫血的临床和细胞遗传学多样性

Clinical and cytogenetic diversity in Fanconi's anaemia.

作者信息

Duckworth-Rysiecki G, Hultén M, Mann J, Taylor A M

出版信息

J Med Genet. 1984 Jun;21(3):197-203. doi: 10.1136/jmg.21.3.197.

DOI:10.1136/jmg.21.3.197

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049266/

Abstract

Abnormally high levels of spontaneous and mitomycin C or diepoxybutane induced chromosome breakage were observed in lymphocytes from eight out of nine previously undescribed patients clinically diagnosed as having Fanconi's anaemia. The results suggest that the combination of spontaneous and induced chromosome breakage is a good aid in the differential diagnosis and we suggest that increased chromosome breakage is pathognomonic for this recessive disorder. It is, however, not possible to demonstrate consistently raised levels of induced chromosome breakage in obligate carriers. The patient who had normal levels of chromosome breakage had an atypical haematological picture and may suffer from a disease genetically different from Fanconi's anaemia.

摘要

在临床诊断为范可尼贫血的9例此前未描述过的患者中，有8例患者的淋巴细胞出现了异常高水平的自发染色体断裂，以及丝裂霉素C或二环氧丁烷诱导的染色体断裂。结果表明，自发和诱导染色体断裂的结合有助于鉴别诊断，并且我们认为染色体断裂增加是这种隐性疾病的特征。然而，在肯定携带者中无法始终证明诱导染色体断裂水平升高。染色体断裂水平正常的患者有非典型的血液学表现，可能患有与范可尼贫血基因不同的疾病。

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本文引用的文献

1

Spectrum of anomalies in Fanconi anaemia.范可尼贫血中的异常谱

J Med Genet. 1982 Dec;19(6):412-6. doi: 10.1136/jmg.19.6.412.

2

The identification of fanconi anemia genotypes by clastogenic stress.通过致断裂应激鉴定范可尼贫血基因型

Am J Hum Genet. 1982 Sep;34(5):794-810.

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Fanconi's anemia: terminal leukemia and "Forme fruste" in one family.

Clin Genet. 1979 Oct;16(4):260-8. doi: 10.1111/j.1399-0004.1979.tb00998.x.

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