Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series

Authors


  • How to Cite this Article: Yachelevich N, Gittler JK, Klugman S, Feldman B, Martin J, Brooks SS, Dobkin C, Nolin SL. 2011. Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series. Am J Med Genet Part A 155:870–874.

Abstract

Terminal deletions on the X chromosome in female patients may be detected as part of a work up for infertility, premature ovarian insufficiency (POI) or in screening for fragile X carrier status. We present the clinical, cytogenetic and molecular features of four patients with terminal deletions of chromosome X that include the FMR1 gene, and discuss biological and genetic implications of this deletion. Providers should be aware of possible identification of Xq27 deletions as a potential outcome of fragile X screening. © 2011 Wiley-Liss, Inc.

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