title: [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].
abstract: OBJECTIVE
  To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome.
  
  
  METHODS
  607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed.
  
  
  RESULTS
  Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome.
  
  
  CONCLUSIONS
  Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.
authors.affiliation: Department of Prenatal Diagnosis Center; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China. 546642036@qq.com.
authors.forename: Jiemei
authors.initials: J
authors.lastname: Zheng
authors.forename: Zhiying
authors.initials: Z
authors.lastname: Liu
authors.forename: Pei
authors.initials: P
authors.lastname: Xia
authors.forename: Yi
authors.initials: Y
authors.lastname: Lai
authors.forename: Yangjun
authors.initials: Y
authors.lastname: Wei
authors.forename: Yanyan
authors.initials: Y
authors.lastname: Liu
authors.forename: Jiurong
authors.initials: J
authors.lastname: Chen
authors.forename: Li
authors.initials: L
authors.lastname: Qin
authors.forename: Liangyu
authors.initials: L
authors.lastname: Xie
authors.forename: He
authors.initials: H
authors.lastname: Wang
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008875:Middle Aged; D009030:Mosaicism; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult