Purpose: Turner syndrome (TS) is one of the most common chromosomal disorders caused by the loss of an X chromosome or the presence of a structurally abnormal X chromosome. The cardinal features are short stature, ovarian failure, and neurocognitive dysfunctions. These phenotypes also have been presented in patients with haploinsufficiency of one or more genes on chromosome Xp. This study was aimed to investigate clinical phenotype of patients with TS with terminal Xp deletion. Methods: This study included 10 females with TS with terminal Xp deletion. Clinical features were retrospectively reviewed in each patient, including age at diagnosis, height and weight SDS, ovarian failure, neurocognitive function, skeletal anomalies such as cubitus valgus, Madelung deformity, short metacarpals, and short neck. The abnormal X chromosomes were composed of terminal del(Xp) with the breakpoints on Xp11 (n =3) and Xp21-22 (n = 7). Results: The mean age at diagnosis of the patients with terminal Xp deletions was 12.9 ± 6.2 years (range, 4.3–21.2 years). Height and weight SDSs were -2.4 ± 1.0 and -0.3 ± 1.7, respectively. The SHOX gene was deleted in 9 patients (90%). Five patients (41.7%) showed cubitus valgus, but the other 5 patients did not have other skeletal anomalies. Among 7 patients with pubertal ages (age ＞13 years), 3 patients (42.9%) showed primary ovarian failure: one with breakpoints on Xp11 and two with breakpoints on Xp21-22. The other 4 patients with breakpoint on Xp21-22 showed spontaneous menarche. Among 7 patients with deletion of the Xp22.3 region, no one showed mental retardation. A 27-year-old female with 46,X,del(X)(p21.1p21.3) showed mental retardation with IQ 35–49. Conclusions: Neurocognitive dysfunction for TS with terminal Xp deletions may be explained by haploinsufficiency of several putative genes such as IL1RAPL1, STS and LGN4X and by skewed inactivation of normal X chromosome. Xp21-22.2 is less important for ovarian development than Xp11. Further studies are required to identify association with phenotypes and Xp terminal deletion because of wide spectrum of phenotype in TS with terminal Xp deletion.