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)

• Published in: Journal of pediatric genetics (Birmingham, Ala.) Ala.), 2018-03, Vol.7 (1), p.023-028
• Main Authors: Peterson, Jess F., Basel, Donald G., Bick, David P., Chirempes, Brett, Lorier, Rachel B., Zemlicka, Nykula, Grignon, John W., Weik, LuAnn, Kappes, Ulrike
• Format: Article
• Language: English
• Subjects: Case Report
• ISSN: 2146-4596; 2146-460X
• DOI: 10.1055/s-0037-1604448

Abstract 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.