Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

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 n...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2005
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1199375/
https://ncbi.nlm.nih.gov/pubmed/15800846
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