Has someone found a woman with both alleles maternal and one paternal in the expansion of the CGG triplet of the FMR1 gene?

We perform the qf-PCR for pre-mutation Fra-X in a female with POI. The G banded karyotype showed an apparently  reciprocal translocation between the X and 1 chromosome, involving the Xq28 and 1qh....

01 July 2016 9,015 1 View