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[范可尼型家族性全血细胞减少症]

[Familial pancytopenia of the Fanconi type].

作者信息

Vulić I, Lukinović N

出版信息

Bilt Hematol Transfuz. 1977;5(3-4):141-5.

PMID:615599
Abstract

Familiar pancytopenia (Fanconi type) is inharited disease of the familiar type with unadequate function of the bone-marrow associated with various congenital malformationes and specific cytogenetic abnormalities. This study deals with two cases of Fanconi pancytopenia found in brother and sister who were treated in the Pediatric Department. This disease has been proved on the basis of the clinical laboratory and rentgenological findings which have been complemented with the cytogenetic method.

摘要

家族性全血细胞减少症(范可尼型)是一种家族性遗传性疾病,伴有骨髓功能不全,并与各种先天性畸形和特定的细胞遗传学异常相关。本研究涉及在儿科接受治疗的一对兄妹所患的两例范可尼全血细胞减少症。该疾病已根据临床实验室检查和X线检查结果得到证实,并通过细胞遗传学方法进行了补充诊断。

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