Article
The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.
American journal of medical genetics. Part A - 1 Oct 2018
Lambert Michele P, Arulselvan Abinaya, Schott Amanda, Markham Stephen J, Crowley Terrance B, Zackai Elaine H, McDonald-McGinn Donna M
Abstract excerpt
The 22q11.2 deletion syndrome (DS) is associated with variable phenotypic expression as findings range from severely affected individuals with the classical triad of DiGeorge and velocardiofacial syndromes, including congenital heart disease, immunodeficiency, hypocalcemia, and palatal abnormalities, to subtly affected adults who only come to attention following the diagnosis of a more severely affected child....
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