title: Comparative cytogenetic analysis in two tissues with different lineage in Turner's syndrome patients: correlation with phenotype.
abstract: OBJECTIVE
  To analyze karyotype of Turner's syndrome (TS) patients in two tissues of different lineage, and to correlate them with phenotype.
  
  
  METHODS
  An observational study was designed at the Gynaecological Endocrinology Unit of Hospital Clinic in Barcelona. Patients diagnosed with TS by blood karyotype were included, between 20 and 50 years of age. A new 50-cell count blood karyotype and a urethral cell karyotype from urine samples were performed. Data on some TS-related comorbidities were collected.
  
  
  RESULTS
  Twenty-seven TS patients were included. Urine cultures of 12 patients were contaminated by microorganisms. With 50-cell count blood karyotype, three cryptic mosaicisms were found. Six patients with mosaicism in blood karyotype showed pure monosomy in urine karyotype. Correlations exist between blood karyotype and phenotype where spontaneous menarche, height, dysmorphology, congenital malformations and hypothyroidism are concerned, whereas they did not appear in urine analysis.
  
  
  CONCLUSIONS
  Karyotyping T-lymphocytes in blood samples is the gold standard technique. 50-cell count may be considered if TS or ovarian failure is suspected, in order to detect cryptic mosaicisms. Urethral cell culture from urine samples presents technical difficulties and some limitations, due to the easier lost of abnormal X-chromosome. A partial correlation between blood karyotype and phenotype exists.
authors.affiliation: Gynaecologic Endocrinology Unit, Clinic Institute of Gynaecology, Obstetrics and Neonatology and.
authors.forename: Cristina
authors.initials: C
authors.lastname: Ros
authors.forename: Anna
authors.initials: A
authors.lastname: Serra
authors.forename: Juan
authors.initials: J
authors.lastname: Balasch
authors.forename: Ester
authors.initials: E
authors.lastname: Margarit
authors.forename: Camil
authors.initials: C
authors.lastname: Castelo-Branco
mesh_terms: D000328:Adult; D004847:Epithelial Cells / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D008875:Middle Aged; D018709:Statistics, Nonparametric; D013601:T-Lymphocytes / Q000473:pathology; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology / Q000652:urine; D055815:Young Adult