TY - JOUR
T1 - Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients
T2 - A case series
AU - Yachelevich, Naomi
AU - Gittler, Julia Klein
AU - Klugman, Susan
AU - Feldman, Barbara
AU - Martin, Joanna
AU - Brooks, Susan Sklower
AU - Dobkin, Carl
AU - Nolin, Sarah L.
PY - 2011/4
Y1 - 2011/4
N2 - 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.
AB - 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.
KW - Fragile X
KW - Non-random X inactivation
KW - Premature ovarian insufficiency
KW - Xq deletion
UR - http://www.scopus.com/inward/record.url?scp=79953317628&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79953317628&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.33936
DO - 10.1002/ajmg.a.33936
M3 - Article
C2 - 21595002
AN - SCOPUS:79953317628
SN - 1552-4825
VL - 155
SP - 870
EP - 874
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 4
ER -