1.
Am J Med Genet A
; 155A(4): 870-4, 2011 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21595002
RESUMO
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.