Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure.

ABSTRACT:

Background

One of the frequent reasons for unsuccessful conception is premature ovarian failure/primary ovarian insufficiency (POF/POI) that is defined as the loss of functional follicles below the age of 40 years. Among the genetic causes the most common one involves the X chromosome, as in Turner syndrome, partial X deletion and X-autosome translocations. Here we report a case of a 27-year-old female patient referred to genetic counselling because of premature ovarian failure. The aim of this case study to perform molecular genetic and cytogenetic analyses in order to identify the exact genetic background of the pathogenic phenotype.

Results

For premature ovarian failure disease diagnostics we performed the Fragile mental retardation 1 gene analysis using Southern blot tec

SUBMITTER: Beke A 

PROVIDER: S-EPMC3914679 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature