Article
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
American journal of medical genetics. Part A - 1 Apr 2018
Palmer Lisa D, Butcher Nancy J, Boot Erik, Hodgkinson Kathleen A, Heung Tracy, Chow Eva W C, Guna Alina, Crowley T Blaine, Zackai Elaine, McDonald-McGinn Donna M, Bassett Anne S
Abstract excerpt
Clinical molecular testing has been available for 22q11.2 deletion syndrome (22q11.2DS) for over two decades yet under-recognition and diagnostic delays are common. To characterize the "diagnostic odyssey" in 22q11.2DS we studied 202 well-characterized unrelated adults, none ascertained through an affected relative. We used a regression model to identify clinical and demographic factors associated with length of...
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