Fanconi anemia?like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene

Posted by rob on June 15, 2011 under Uncategorized | Comments are off for this article

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 from this patient demonstrated increased chromosome breakage with exposure to the clastogen mitomycin C, but not, in contrast to most FA patients, to diepoxybutane. Further testing by Western analysis and complementation testing did not show a defect in the function of known Fanconi proteins. Her constitutional deletion was later found to span 13.2?Mb by chromosome microarray ana…
More