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

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

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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.

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