structural variation

22Q11 Deletion Syndrome – the most common version of a rare thing, affecting close to 1 in 1000 births – is no picnic for genetic counselors. Presentation is complex and unpredictable and can include structural, developmental, and behavioral manifestations. The history of 22Q is a mirror of genomic medicine, with diagnosis by phenotype giving way to diagnosis by genotype, and in the process expanding our definition of “affected.” Donna McDonald-McGinn, who has been working with families dealing with 22Q11 Deletion Syndrome at the Children’s Hospital of Philadelphia for over 2 decades, is on a first-name basis with much of that history, and comes on the Beagle today to share her enthusiasm for working with this special community, and discuss the arguments for adding 22Q to the current Newborn Screening panel – and what the recent New York Times article on microdeletion testing in the prenatal phase got wrong.