Article
Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication.
American journal of medical genetics. Part A - 15 Nov 2008
Horbinski Craig, Carter Erika M, Heard Patricia L, Sathanoori Malini, Hu Jie, Vockley Jerry, Gunn Shelly, Hale Daniel E, Surti Urvashi, Cody Jannine D
Abstract excerpt
Recurrent constitutional non-Robertsonian translocations are very rare. We present the third instance of cryptic, unbalanced translocation between 4q and 18q. This individual had an apparently normal karyotype; however, after subtelomere fluorescence in situ hybridization (FISH), he was found to have a cryptic unbalanced translocation between 4q and 18q [ish der(18)t(4;18)(q35;q23)(4qtel+,18qtel-)]....
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