Article
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
American journal of medical genetics. Part A - 1 Aug 2013
Curry Cynthia J, Rosenfeld Jill A, Grant Erica, Gripp Karen W, Anderson Carol, Aylsworth Arthur S, Saad Taha Ben, Chizhikov Victor V, Dybose Giedre, Fagerberg Christina, Falco Michelle, Fels Christina, Fichera Marco, Graakjaer Jesper, Greco Donatella, Hair Jennifer, Hopkins Elizabeth, Huggins Marlene, Ladda Roger, Li Chumei, Moeschler John, Nowaczyk Malgorzata J M, Ozmore Jillian R, Reitano Santina, Romano Corrado, Roos Laura, Schnur Rhonda E, Sell Susan, Suwannarat Pim, Svaneby Dea, Szybowska Marta, Tarnopolsky Mark, Tervo Raymond, Tsai Anne Chun-Hui, Tucker Megan, Vallee Stephanie, Wheeler Ferrin C, Zand Dina J, Barkovich A James, Aradhya Swaroop, Shaffer Lisa G, Dobyns William B
Abstract excerpt
Chromosome 17p13.3 is a gene rich region that when deleted is associated with the well-known Miller-Dieker syndrome. A recently described duplication syndrome involving this region has been associated with intellectual impairment, autism and occasional brain MRI abnormalities. We report 34 additional patients from 21 families to further delineate the clinical, neurological, behavioral, and brain imaging findings....
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