The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry
PF Giampietro, JG Davis, B Adler-Brecher… - …, 1993 - publications.aap.org
Objective. The objective of this study was to address the need for early diagnosis of Fanconi
anemia (FA), an autosomal recessive chromosomal instability syndrome characterized by a
unique cellular hypersensitivity to DNA cross-linking agents, such as diepoxybutane, and by
a high risk of malignancies. Methods. We analyzed data from 370 FA patients enrolled in the
American Registry of the International FA Registry. Of these individuals, 220 had congenital
malformations; the rest were ascertained based on hematologic abnormalities only or on …
anemia (FA), an autosomal recessive chromosomal instability syndrome characterized by a
unique cellular hypersensitivity to DNA cross-linking agents, such as diepoxybutane, and by
a high risk of malignancies. Methods. We analyzed data from 370 FA patients enrolled in the
American Registry of the International FA Registry. Of these individuals, 220 had congenital
malformations; the rest were ascertained based on hematologic abnormalities only or on …
