Article
Microduplication and triplication of 22q11.2: a highly variable syndrome.
American journal of human genetics - 1 May 2005
Yobb Twila M, Somerville Martin J, Willatt Lionel, Firth Helen V, Harrison Karen, MacKenzie Jennifer, Gallo Natasha, Morrow Bernice E, Shaffer Lisa G, Babcock Melanie, Chernos Judy, Bernier Francois, Sprysak Kathy, Christiansen Jesse, Haase Shelagh, Elyas Basil, Lilley Margaret, Bamforth Steven, McDermid Heather E
Abstract excerpt
22q11.2 microduplications of a 3-Mb region surrounded by low-copy repeats should be, theoretically, as frequent as the deletions of this region; however, few microduplications have been reported. We show that the phenotype of these patients with microduplications is extremely diverse, ranging from normal to behavioral abnormalities to multiple defects, only some of which are reminiscent of the 22q11.2 deletion...
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