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

5 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)870-874
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number4
DOIs
StatePublished - Apr 2011

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series'. Together they form a unique fingerprint.

  • Cite this