Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.
Podolska A, Kobelt A, Fuchs S, Hackmann K, Rump A, Schröck E, Kutsche K, Di Donato N. Am J Med Genet A. 2017 May; 173(5):1334-1341. Epub 2017 Mar 31.