title: Mosaic triple X syndrome in a female with primary amenorrhea.
abstract: BACKGROUND
  Turner's syndrome is the most common chromosomal abnormality in females, affecting 1 in 2,500 live female births. It is a result of absence of an X chromosome or the presence of a structurally abnormal X chromosome. Its most consistent clinical features are short stature and ovarian failure.
  
  
  OBJECTIVE
  The aim of the study was to report a rare case of mosaic triple X syndrome in a female with primary amenorrhea.
  
  
  METHODS
  The chromosomal analysis using GTG banding was carried out, which revealed a mosaicism with 45,XO/47,XXX chromosomal constitution. Fluorescent in situ hybridization was also carried out to further confirm the observation made in the study.
  
  
  CONCLUSIONS
  The physical features presented by the female could be due to the 45,XO/47,XXX mosaicism and the karyotype analysis was consistent with the diagnosis and clinical symptoms. Triple X mosaicism was confirmed with conventional and molecular cytogenetic analysis.
authors.affiliation: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, India.
authors.forename: A
authors.initials: A
authors.lastname: Venkateshwari
authors.forename: K
authors.initials: K
authors.lastname: Srimanjari
authors.forename: A
authors.initials: A
authors.lastname: Srilekha
authors.forename: Ashrafunnisa
authors.initials: A
authors.lastname: Begum
authors.forename: M
authors.initials: M
authors.lastname: Sujatha
authors.forename: T
authors.initials: T
authors.lastname: Sunitha
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nallari
authors.forename: A
authors.initials: A
authors.lastname: Jyothy