Venkateshwari, ASrimanjari, KSrilekha, ABegum, AshrafunnisaSujatha, MSunitha, TNallari, PratibhaJyothy, A2012-11-222012-11-222012-05Venkateshwari A, Srimanjari K, Srilekha A, Begum Ashrafunnisa, Sujatha M, Sunitha T, Nallari Pratibha, Jyothy A. Mosaic triple X syndrome in a female with primary amenorrhea. Indian Journal of Human Genetics. 2012 May; 18(2): 246-249.http://imsear.searo.who.int/handle/123456789/143281Background: 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. Aim: The aim of the study was to report a rare case of mosaic triple X syndrome in a female with primary amenorrhea. Materials and 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. Conclusion: 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.enFluorescent in situ hybridizationkaryotypeprimary amenorrheaTurner′s syndromeArticle