title: Clinical significance of the parental origin of the X chromosome in turner syndrome.
abstract: BACKGROUND
  The phenotype in Turner syndrome (TS) is variable, even in patients with a supposedly nonmosaic karyotype. Previous work suggested that there were X-linked parent-of-origin effects on the phenotype.
  
  
  OBJECTIVE
  The TS phenotype is influenced by the parental origin of the missed X chromosome.
  
  
  METHODS
  This was a multicenter prospective study of TS patients and both their parents, determining parental origin of the X-chromosome, and characterizing the clinical phenotype.
  
  
  METHODS
  Eighty-three TS patients and their parents were studied. Inclusion criteria were TS with karyotype 45,X or 46Xi(Xq). Four highly polymorphic microsatellite markers on the X-chromosome DMD49, DYSII, DXS1283, and the androgen receptor gene and three Y chromosome markers, SRY, DYZ1, and DYZ3.
  
  
  METHODS
  The study determined the correlation between the parental origin of the X chromosome and the unique phenotypic traits of TS including congenital malformations, anthropometry and growth pattern, skeletal defects, endocrine traits, education, and vocation.
  
  
  RESULTS
  Eighty-three percent of 45,X retained their maternal X (X(m)), whereas 64% 46Xi(Xq) retained their paternal X (X(p), P < 0.001). Kidney malformations were exclusively found in X(m) patients (P = 0.030). The X(m) group had lower total and low-density lipoprotein cholesterol (P < 0.003), and higher body mass index sd score (P = 0.030) that was not maintained after GH treatment. Response to GH therapy was comparable. Ocular abnormalities were more common in the paternal X group (P = 0.017), who also had higher academic achievement.
  
  
  CONCLUSIONS
  The parental origin of the missing short arm of the X chromosome has an impact on overweight, kidney, eye, and lipids, which suggests a potential effect of an as-yet-undetermined X chromosome gene imprinting.
authors.affiliation: Division of Endocrinology, Meyer Children's Hospital, Rambam Medical Center, P.O. Box 9602, Haifa 31096, Israel.
authors.forename: Liora
authors.initials: L
authors.lastname: Sagi
authors.forename: Nehama
authors.initials: N
authors.lastname: Zuckerman-Levin
authors.forename: Aneta
authors.initials: A
authors.lastname: Gawlik
authors.forename: Lucia
authors.initials: L
authors.lastname: Ghizzoni
authors.forename: Atilla
authors.initials: A
authors.lastname: Buyukgebiz
authors.forename: Yardena
authors.initials: Y
authors.lastname: Rakover
authors.forename: Tzvi
authors.initials: T
authors.lastname: Bistritzer
authors.forename: Osnat
authors.initials: O
authors.lastname: Admoni
authors.forename: Alessandra
authors.initials: A
authors.lastname: Vottero
authors.forename: Oshrat
authors.initials: O
authors.lastname: Baruch
authors.forename: Fuad
authors.initials: F
authors.lastname: Fares
authors.forename: Ewa
authors.initials: E
authors.lastname: Malecka-Tendera
authors.forename: Ze'ev
authors.initials: Z
authors.lastname: Hochberg
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005260:Female; D050723:Fractures, Bone / Q000453:epidemiology; D013006:Growth Hormone / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D040582:Inheritance Patterns; D010290:Parents; D012923:Social Class; D014424:Turner Syndrome / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology
chemical_list: D013006:Growth Hormone