Mosaic triple X syndrome in a female with primary amenorrhea.

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dc.contributor.authorVenkateshwari, A
dc.contributor.authorSrimanjari, K
dc.contributor.authorSrilekha, A
dc.contributor.authorBegum, Ashrafunnisa
dc.contributor.authorSujatha, M
dc.contributor.authorSunitha, T
dc.contributor.authorNallari, Pratibha
dc.contributor.authorJyothy, A
dc.date.accessioned2012-11-22T06:20:58Z
dc.date.available2012-11-22T06:20:58Z
dc.date.issued2012-05
dc.description.abstractBackground: 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.en_US
dc.identifier.citationVenkateshwari 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.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/143281
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2012;volume=18;issue=2;spage=246;epage=249;aulast=Venkateshwarien_US
dc.subjectFluorescent in situ hybridizationen_US
dc.subjectkaryotypeen_US
dc.subjectprimary amenorrheaen_US
dc.subjectTurner′s syndromeen_US
dc.titleMosaic triple X syndrome in a female with primary amenorrhea.en_US
dc.typeArticleen_US
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