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Updated: Jun 21, 2026

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
X;7 translocation in an Indian woman with hypergonadotropic amenorrhea-a case report
Vidya Rendheer Vasu1, Nallathambi Chandra, Sathiyavedu Thyagarajan Santhiya
1Department of Genetics, Dr. A.L.M. P.G. Institute of Basic Medical Sciences, University of Madras, Chennai, India.
Abstract:
Translocations involving X chromosome and an autosome are rather rare due to the associated infertility in men and subfertility in women. X-autosome translocations are frequently associated with primary or secondary ovarian failure and at times Turner syndrome-like features if there is an involvement of the critical region of Xq13-q26. A 19-year-old proposita with a complaint of amenorrhea was found to have hypoplastic uterus and streak ovaries. Hormonal profile revealed hypergonadotropic hypogonadism. Chromosomal analysis of 25 conventionally stained metaphases revealed the karyotype to be 46,X,t(X;7)(q13;p15)de novo. This rare finding is the first report from India, to the best of our knowledge. She also exhibited the maternally inherited heteromorphic variant of chromosome 21. The occurrence of t(X;7) in the proposita with hypergonadotropic amenorrhea confirms the role of X-autosome translocations in ovarian dysfunction.
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