In vitro chromosomal radiosensitivity in “chromosomal breakage syndromes”

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Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis

Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of inheritance for all subtypes is autosomal recessive, except for FA-B, which is X-linked. Cells derived from FA patients are-by definition-hypersen...

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A chromosomal breakage syndrome with profound immunodeficiency.

The chromosomal breakage syndromes--ataxia-telangiectasia, Fanconi's anemia, and Bloom's syndrome--are associated with growth failure, neurologic abnormalities, immunodeficiency, and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21-year-old female with more severe chromosomal breakage, immunodeficiency, and growth failure than ...

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ژورنال

عنوان ژورنال: Cancer

سال: 1973

ISSN: 0008-543X,1097-0142

DOI: 10.1002/1097-0142(197308)32:2<380::aid-cncr2820320214>3.0.co;2-2