title: A Rare De Novo Balanced X; 1 Translocation in an Indian Female with Primary Amenorrhea.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: - Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
authors.forename: Ananthapur
authors.initials: A
authors.lastname: Venkateshwari
authors.affiliation: - Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
authors.forename: Avvari
authors.initials: A
authors.lastname: Srilekha
authors.affiliation: - Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
authors.forename: Koka
authors.initials: K
authors.lastname: Veena
authors.affiliation: - Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
authors.forename: Madireddy
authors.initials: M
authors.lastname: Sujatha
authors.affiliation: - Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
authors.forename: Akka
authors.initials: A
authors.lastname: Jyothy
keywords: Abnormal karyotype; Balanced X autosome translocation; Gonadal dysgenesis; Primary amenorrhea