SALSA MLPA probemix P250-B1 DiGeorge
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چکیده
Microdeletions/-duplications in the 22q11 region cause a variety of disorders, including DiGeorge syndrome (DGS; MIM 188400), velocardiofacial syndrome (VCFS; MIM 192430) and cat eye syndrome (CES; MIM 115470). DGS and VCFS have a large clinical overlap and are both caused by deletions of a specific 1-3 Mb region on chromosome 22q11. The overall birth prevalence of 22q11 deletions appears to be approximately 1 in 4,000, with 75% of these patients having cardiac abnormalities.
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