Turner Syndrome (TS) is defined as the combination of characteristic physical features in phenotypic females and complete or partial absence of the second sex chromosome. Short stature is a constant clinical finding in patients with TS. We report the case of a 18 year old female with TS and normal stature. Primary amenorrhea was the reason for the first clinical presentation. Laboratory evaluation showed hypergonadotropic hypogonadism, low oestrogens and testosterone. A pelvic ultrasound showed the presence of uterus. A G-band chromosomal analysis on peripheral blood lymphocytes was used to perform the karyotype. The classical karyotype was 45,X, der(13)t(13;Y)(q10,q10). Y chromosome material was identified by FISH using a Y centromeric probe. Array CGH was performed with normal male genome as reference and revealed the full deletion of SRY region in the presence of otherwise complete Y chromosome: arrYp11.31(2 565 8712871,490×0, 3 025 075). From our knowledge this is the first report of a Turner syndrome female due to SRY gene complete deletion and translocation of Y chromosome on autosome.