A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).

Autor: Peterson JF; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States., Basel DG; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.; Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States., Bick DP; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States., Chirempes B; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States., Lorier RB; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States., Zemlicka N; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States., Grignon JW Jr; Wisconsin Diagnostic Laboratories, Milwaukee, Wisconsin, United States., Weik L; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States., Kappes U; Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2018 Mar; Vol. 7 (1), pp. 23-28. Date of Electronic Publication: 2017 Jul 26.

Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases.

Autor: Ciaccio, Claudia, Redaelli, Serena, Bentivegna, angela, Marelli, Susan, Crosti, Francesca, Sala, Elena M., Cavallari, Ugo

Publikováno v: Cytogenetic & Genome Research; 2020, Vol. 160 Issue 2, p80-84, 5p, 1 Diagram