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 Citations (Scopus)

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

Fingerprint

X Chromosome
Chromosome Deletion
Cytogenetics
Infertility
Genes

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients : A case series. / Yachelevich, Naomi; Gittler, Julia Klein; Klugman, Susan; Feldman, Barbara; Martin, Joanna; Brooks, Susan Sklower; Dobkin, Carl; Nolin, Sarah L.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 4, 04.2011, p. 870-874.

Research output: Contribution to journalArticle

Yachelevich, Naomi ; Gittler, Julia Klein ; Klugman, Susan ; Feldman, Barbara ; Martin, Joanna ; Brooks, Susan Sklower ; Dobkin, Carl ; Nolin, Sarah L. / Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients : A case series. In: American Journal of Medical Genetics, Part A. 2011 ; Vol. 155, No. 4. pp. 870-874.
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