Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

A Rare De Novo Balanced X; 1 Translocation in an Indian Female with Primary Amenorrhea

Authors
Ananthapur Venkateshwari
Avvari Srilekha
Koka Veena
Madireddy Sujatha
Akka Jyothy
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India
Abstract
Background: Translocations involving X chromosome and an autosome are rather rare due to associated infertility in men and subfertility in women. X chromosome translocations are frequently associated with primary or secondary amenorrhea. In this report, a case of primary amenorrhea with a de novo balanced reciprocal translocation was presented between chromosomes X and 1. Case Presentation: A 24 year-old proposita with the complaint of primary amenorrhea was found to have hypoplastic uterus and streak gonads with a normal hormonal profile. Chromosomal analysis of the proband revealed a de novo translocation of 46, X, t(X; 1) (q21; p32) chromosomal constitution. Parental karyotypes of the proband showed normal karyotype. Conclusion: The observed translocation between chromosome X and 1 in the patient suggest either the disruption of a critical gene expression due to position effect or deletion of one or more essential genes in the disrupted long arm of the affected X chromosome. To the best of our knowledge, this is the first report from our ethnic group.
Keywords
Abnormal karyotype
Balanced X autosome translocation
Gonadal dysgenesis
Primary amenorrhea
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Journal of Reproduction & Infertility
Volume 16, Issue 3
Summer 2015
Pages 171-173