title: New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome.
abstract: BACKGROUND
  Phenotypic variability of Turner syndrome (TS) challenges clinicians, and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype correlations. This study assessed the extent of phenotypic variability and investigated the presence of karyotype-phenotype correlations.
  
  
  METHODS
  The sample comprised 80 patients with ≥50 cells analyzed in karyotype. Twenty were 45,X/46,X,+mar; three groups of 20 patients were constructed by matching those girls with the nearest-aged patient with 45,X, 45,X/46,XX and 45,X/46,X,i(Xq) or 46,X,i(Xq) karyotype.
  
  
  RESULTS
  Data were obtained on height z-score, dysmorphic features, echocardiogram and urinary system sonography. The number of dysmorphic features ranged from one to 16 and was not correlated to age at diagnosis or height. The groups did not differ in height, number of dysmorphic features, cardiovascular and urinary system anomalies and frequency of any specific feature, except for short fourth metacarpal.
  
  
  CONCLUSIONS
  Wide phenotypical variability of TS may be objectively described and its clinical picture is not correlated to karyotype.
authors.forename: Jamil
authors.initials: J
authors.lastname: Miguel-Neto
authors.forename: Annelise B
authors.initials: AB
authors.lastname: Carvalho
authors.forename: Antonia Paula
authors.initials: AP
authors.lastname: Marques-de-Faria
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Júnior
authors.forename: Andréa T
authors.initials: AT
authors.lastname: Maciel-Guerra
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D007621:Karyotyping / Q000379:methods*; D008297:Male; D010641:Phenotype; D011379:Prognosis; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult