Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

@article{Ou2006EvidenceFI,
  title={Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations},
  author={Zhishuo Ou and Małgorzata Jarmuż and Steven Sparagana and Jacques L. Michaud and Jean-Claude D{\'e}carie and Svetlana A Yatsenko and Beata Anna Nowakowska and Patti Furman and Chad A. Shaw and Lisa G. Shaffer and James R Lupski and Alan Craig Chinault and Sau W Cheung and Paweł Stankiewicz},
  journal={Human Genetics},
  year={2006},
  volume={120},
  pages={227-237}
}
We report clinical findings and molecular cytogenetic analyses for two patients with translocations [t(14;17)(p12;p12) and t(15;17)(p12;p13.2)], in which the chromosome 17 breakpoints map at a large low-copy repeat (LCR) and a breakage-prone TRE-2 (USP6) oncogene, respectively. In family 1, a 6-year-old girl and her 5-year-old brother were diagnosed with mental retardation, short stature, dysmorphic features, and Charcot-Marie-Tooth disease type 1A (CMT1A). G-banding chromosome analysis showed… CONTINUE READING