title: Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran.
abstract: BACKGROUND
  Chromosome abnormality (CA) including Sex chromosomes abnormality (SCAs) is one of the most important causes of disordered sexual development and infertility. SCAs formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth.
  
  
  OBJECTIVE
  This study describes cytogenetic findings of cases suspected with CA referred for cytogenetic study.
  
  
  METHODS
  Blood samples of 4151 patients referred for cytogenetic analysis were cultured for chromosome preparation. Karyotypes were prepared for all samples and G-Banded chromosomes were analyzed using x100 objective lens. Sex chromosome aneuploidy cases were analyzed and categorized in two groups of Turners and Klinefelter's syndrome (KFS).
  
  
  RESULTS
  Out of 230 (5.54%) cases with chromosomally abnormal karyotype, 122 (30%) cases suspected of sexual disorder showed SCA including 46% Turner's syndrome, 46% KFS and the remaining other sex chromosome abnormalities. The frequency of classic and mosaic form of Turner's syndrome was 33% and 67%, this was 55% and 45% for KFS, respectively.
  
  
  CONCLUSIONS
  This study shows a relatively high sex chromosome abnormality in this region and provides cytogenetic data to assist clinicians and genetic counselors to determine the priority of requesting cytogenetic study. Differences between results from various reports can be due to different genetic background or ethnicity.
authors.affiliation: Human Genetic Research Group, Iranian Academic Center for Education, Culture and Research, Fars Province Branch, Shiraz, Iran. ; Institute of Biochemistry and Biophysics, Tehran University, Tehran, Iran.
authors.forename: Najmeh
authors.initials: N
authors.lastname: Jouyan
authors.affiliation: Human Genetic Research Group, Iranian Academic Center for Education, Culture and Research, Fars Province Branch, Shiraz, Iran.
authors.forename: Elham
authors.initials: E
authors.lastname: Davoudi Dehaghani
authors.affiliation: Human Genetic Research Group, Iranian Academic Center for Education, Culture and Research, Fars Province Branch, Shiraz, Iran.
authors.forename: Sara
authors.initials: S
authors.lastname: Senemar
authors.affiliation: Human Genetic Research Group, Iranian Academic Center for Education, Culture and Research, Fars Province Branch, Shiraz, Iran.
authors.forename: Ashraf
authors.initials: A
authors.lastname: Shojaee
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Mozdarani
keywords: Cytogenetic; Disorders of sexual development; Infertility; Sex chromosome abnormality; South of Iran