Objective      To identify the relationship between Turner syndrome mosaic karyotype and clinical manifestations

and the effect on the procreation

prenatal diagnosis and pregnancy outcome by studying mosaic karyotype analysis

clinical signs and symptoms

procreation and prenatal diagnosis in Turner syndrome.       Methods      A total of 27 Turner syndrome mosaicism patients whose age were 12 to 19 in the Center of Prenatal Diagnosis from July 2005 to September 2011 were enrolled in these study. Another 5 Turner syndrome fetuses found in prenatal diagnosis with health mothers were also collected. Their karyotype was analyzed by karyotype analysis and chromosome G-band. The clinical manifestations were studied by gynecological ultrasonography and examination

sex hormone

procreation and pregnancy outcome by prenatal diagnosis. The relationship among their karyotype and clinical signs and symptoms

prenatal diagnosis and pregnancy outcome was investigated.       Results      The gonadal hormone and growth hormone of 45

X mosaicism were lower than normal levels. Among 27 patients

there were only 2 having potential generandi but congenital dysplastic fetus. Among 5 Turner syndrome fetuses

there were 4 induced abortion due to birth defects and 1 growing normally and given a birth.       Conclusion      The clinical manifestations and severity of Turner syndrome is related to the percentage of abnormal karyotype. The larger the percentage is

the more severe the manifestations are. But few cases may disobey to this law. When the fetus are 45

X mosaicism during prenatal diagnosis

the pregnancy outcome is related to percentage of abnormal karyotype and fetal system ultrasound results.