Article
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
Human mutation - 1 Jul 2018
Grochowski Christopher M, Gu Shen, Yuan Bo, Tcw Julia, Brennand Kristen J, Sebat Jonathan, Malhotra Dheeraj, McCarthy Shane, Rudolph Uwe, Lindstrand Anna, Chong Zechen, Levy Deborah L, Lupski James R, Carvalho Claudia M B
Abstract excerpt
Small supernumerary marker chromosomes (sSMC) are chromosomal fragments difficult to characterize genomically. Here, we detail a proband with schizoaffective disorder and a mother with bipolar disorder with psychotic features who present with a marker chromosome that segregates with disease. We explored the architecture of this marker and investigated its temporal origin. Array comparative genomic hybridization...
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