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Gain of 11q23.3 and loss of 9p21.3 coexisting in case #18.

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posted on 2014-04-11, 03:26 authored by Rui Zhang, Ji-Yun Lee, Xianfu Wang, Weihong Xu, Xiaoxia Hu, Xianglan Lu, Yimeng Niu, Rurong Tang, Shibo Li, Yan Li

(A) Lower signal of 21,755,226–22,097,452 on chromosome 9 was recognized by array CGH analysis. (B) A gain in the region of 116,893,506–119,524,806 was observed on chromosome 11 by array CGH. (C) UCSC genome browser (hg18) indicated the RefSeq genes involved CDKN2A/B genes and MLL gene. (D) FISH analysis showed the concurrent CDKN2A gene deletion and MLL gene amplication in interphase nuclei. The left nucleus showed the homogenous deletion of CDKN2A and the right nucleus demonstrated the heterogenous deletion of CDKN2A.

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