De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome
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DOI: 10.1159/000497173
Abstract: This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis. Several genetic tests were carried out to determine the… read more here.
Keywords: novo unbalanced; deletion; translocation 22q11; unbalanced translocation ... See more keywords