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Keywords:

  • fragile X;
  • Xq deletion;
  • premature ovarian insufficiency;
  • non-random X inactivation

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.