Tetralogy of Fallot

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration.


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PMID (PMCID)
21626672
 FEMALE Infant, Newborn
Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene.
Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA.
Am J Med Genet A. 2011;155A(7):1673-9.
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.