| CASE REPORT |
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| Year : 2012 | Volume
: 18
| Issue : 2 | Page : 246-249 |
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Mosaic triple X syndrome in a female with primary amenorrhea
A Venkateshwari1, K Srimanjari1, A Srilekha1, Ashrafunnisa Begum1, M Sujatha1, T Sunitha1, Pratibha Nallari2, A Jyothy1
1 Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, India
2 Department of Genetics, Osmania University, Hyderabad, India
Correspondence Address:
A Venkateshwari
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad - 500 016
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.100790
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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.
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. |
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