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Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series
Author(s) -
Yachelevich Naomi,
Gittler Julia Klein,
Klugman Susan,
Feldman Barbara,
Martin Joanna,
Brooks Susan Sklower,
Dobkin Carl,
Nolin Sarah L.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33936
Subject(s) - genetics , premature ovarian failure , infertility , biology , fragile x syndrome , x chromosome , gene , fragile x , chromosome , fmr1 , terminal (telecommunication) , genetic counseling , computer science , pregnancy , endocrinology , telecommunications
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.