The co-existence of rare clinical findings in a patient with a genetic abnormality has often led to the characterization of new syndromes. Although these genetic syndromes are generally rare, the pathophysiology of these disorders has broadened our understanding of common medical conditions. The variety of disorders that map to chromosome 21 provide insight into the effects of lifelong low pO2 and poor perfusion on various organs. In discovering the different disorders that map specifically to chromosome 21, we can characterized, treat and even prevent some medical conditions. We present the case of a man whose incidental finding of hypoxemia lead to the discovery of many unusual disorders that appear to be related to abnormalities in chromosome 21.
ASJC Scopus subject areas