title: Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case series.
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.
authors: The Center for Congenital Disorders, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA. naomi_yachelevich@URMC.rochester.edu
authors: Naomi
authors: N
authors: Yachelevich
authors: Julia Klein
authors: JK
authors: Gittler
authors: Susan
authors: S
authors: Klugman
authors: Barbara
authors: B
authors: Feldman
authors: Joanna
authors: J
authors: Martin
authors: Susan Sklower
authors: SS
authors: Brooks
authors: Carl
authors: C
authors: Dobkin
authors: Sarah L
authors: SL
authors: Nolin