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

Naomi Yachelevich, Julia Klein Gittler, Susan Klugman, Barbara Feldman, Joanna Martin, Susan Sklower Brooks, Carl Dobkin, Sarah L. Nolin

Research output: Contribution to journalArticle

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)870-874
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
StatePublished - Apr 1 2011



  • Fragile X
  • Non-random X inactivation
  • Premature ovarian insufficiency
  • Xq deletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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