Article
Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.
Human mutation - 1 Aug 2005
Wieser R, Fritz B, Ullmann R, Müller I, Galhuber M, Storlazzi C T, Ramaswamy A, Christiansen H, Shimizu N, Rehder H
Abstract excerpt
The 22q11.2 microdeletion syndrome is the most frequent microdeletion syndrome in humans, yet its genetic basis is complex and is still not fully understood. Most patients harbor a 3-Mb deletion (typically deleted region [TDR]), but occasionally patients with atypical deletions, some of which do not overlap with each other and/or the TDR, have been described. Microduplication of the TDR leads to a phenotype...
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