Article
Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene.
American journal of medical genetics. Part A - 1 Jul 2011
Click Eleanor S, Cox Barbara, Olson Susan B, Grompe Markus, Akkari Yassmine, Moreau Lisa A, Shimamura Akiko, Sternen Darci L, Liu Yajuan J, Leppig Kathleen A, Matthews Dana C, Parisi Melissa A
Abstract excerpt
We describe a newborn female with a de novo interstitial deletion of chromosome 21q21.1-22.12 including the RUNX1 gene who had developmental delay, multiple congenital anomalies, tetralogy of Fallot, anemia, and chronic thromobocytopenia requiring frequent platelet transfusions from birth. Because of her physical and hematologic abnormalities, she was tested for Fanconi anemia (FA). Lymphocytes and fibroblasts...
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