TY - JOUR AU - Peterson, Jess F.; Basel, Donald G.; Bick, David P.; Chirempes, Brett; Lorier, Rachel B.; Zemlicka, Nykula; Grignon, John W., Jr.; Weik, LuAnn; Kappes, Ulrike TI - 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) SN - 2146-4596 SN - 2146-460X PY - 2018 JO - J Pediatr Genet JF - Journal of Pediatric Genetics LA - EN VL - 07 IS - 01 SP - 023 EP - 028 ET - 2017/07/26 DA - 2018/02/12 KW - 3q25.33-q29 duplication KW - Xq13.2-q28 deletion KW - translocation KW - atypical Turner's syndrome KW - functional disomy Xp KW - duplication 3q syndrome KW - XIST KW - intellectual disability KW - fluorescence in situ hybridization KW - array comparative genomic hybridization AB - We report a 19-year-old female patient with a history of short stature, primary ovarian insufficiency, sensorineural hearing loss, sacral teratoma, neurogenic bladder, and intellectual disability with underlying mosaicism for der(X)t(X;3)(q13.2;q25.33), a ring X chromosome, and monosomy X. Derivative X chromosomes from unbalanced X-autosomal translocations are preferentially silenced by the XIST gene (Xq13.2) located within the X-inactivation center. The unbalanced X-autosomal translocation in our case resulted in loss of the XIST gene thus precluding the inactivation of the derivative X chromosome. As a result, clinical features of functional disomy Xp, Turner's syndrome, and duplication 3q syndrome were observed. Importantly, indications of the derivative X chromosome were revealed by microarray analysis following an initial diagnosis of Turner's syndrome made by conventional cytogenetic studies approximately 18 months earlier. This case demonstrates the importance of utilizing microarray analysis as a first-line test in patients with clinical features beyond the scope of a well-defined genetic syndrome. PB - Georg Thieme Verlag KG DO - 10.1055/s-0037-1604448 UR - http://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0037-1604448 ER -