Article
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
Molecular genetics & genomic medicine - 1 Jan 2018
Asur Rajalakshmi S, Kimble Danielle C, Lach Francis P, Jung Moonjung, Donovan Frank X, Kamat Aparna, Noonan Raymond J, Thomas James W, Park Morgan, Chines Peter, Vlachos Adrianna, Auerbach Arleen D, Smogorzewska Agata, Chandrasekharappa Settara C
Abstract excerpt
BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of...
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