Article
Comparison of chromosome breakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes.
Cytogenetic and genome research - 1 Jan 2014
Fargo John H, Rochowski Andrzej, Giri Neelam, Savage Sharon A, Olson Susan B, Alter Blanche P
Abstract excerpt
Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome (IBMFS). Affected individuals must be distinguished from relatives, patients with mosaicism must be identified, and patients with other IBMFS classified as non-FA. The diagnostic feature of FA is increased chromosomal breakage in blood lymphocytes cultured with diepoxybutane or mitomycin C. Here, we sought a method to uniquely identify patients...
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