Pranav Gupta

22q11.2 Deletion Syndrome: A Comprehensive Review for Pediatricians From Diagnosis to Adult Care Transition

Affecting ~1 in 4000 to 6000 live births, 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome. It results from a 1.5 to 3 Mb heterozygous deletion at chromosome 22q11.2 and is associated with a broad spectrum of clinical manifestations, inc...