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Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
Mosaic triple X syndrome in a female with primary amenorrhea
A Venkateshwari1, K Srimanjari, A Srilekha
1Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, India.
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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