J Pediatr Genet 2018; 07(01): 023-028
DOI: 10.1055/s-0037-1604448
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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)

Jess F. Peterson
1  Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
,
Donald G. Basel
2  Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
3  Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
,
David P. Bick
4  HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States
,
Brett Chirempes
5  The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States
,
Rachel B. Lorier
5  The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States
,
Nykula Zemlicka
5  The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States
,
John W. Grignon Jr.
6  Wisconsin Diagnostic Laboratories, Milwaukee, Wisconsin, United States
,
LuAnn Weik
2  Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
,
Ulrike Kappes
3  Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
5  The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States
› Author Affiliations
Further Information

Publication History

16 May 2017

28 June 2017

Publication Date:
26 July 2017 (eFirst)

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.