Article
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.
American journal of medical genetics. Part A - 1 Sept 2011
Veerapandiyan Aravindhan, Abdul-Rahman Omar A, Adam Margaret P, Lyons Michael J, Manning Melanie, Coleman Karlene, Kobrynski Lisa, Taneja Deeksha, Schoch Kelly, Zimmerman Holly H, Shashi Vandana
Abstract excerpt
Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with numerous and variable clinical manifestations including conotruncal heart abnormalities, palatal anomalies, hypoparathyroidism, immune deficiency, and cognitive deficits. The clinical suspicion of this syndrome is often heightened by the presence of characteristic facial features. A previous report highlighted the under-diagnosis of this condition...
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