Association of Turner's syndrome and Swyer's syndrome in the same family

We report two phenotypically and genetically different diseases in the same family. One patient presented with Turner phenotype as a result of chromos omal mosaicism 45,X/46,X, inv(X)(q21;q24) (30%/70%). Her father's sister sh owed 46,XY female gonadal dysgenesis (Swyer's syndrome) as a result of a po int mutation in the SRY gene on her Y chromosome. DNA sequencing revealed a G-->C transversion (nucleotide position 693) resulting in a change from gl ycine95 to arginine (G95R). Here we report for the first time an associatio n of Turner's syndrome and Swyer's syndrome in the same family.