Hostname: page-component-7479d7b7d-jwnkl Total loading time: 0 Render date: 2024-07-08T17:35:20.995Z Has data issue: false hasContentIssue false
  • English
  • Français

Balanced X; 22 Translocation in a Patient with Premature Ovarian Failure

Published online by Cambridge University Press:  01 August 2014

N. Banerjee ,
A. Kriplani ,
D. Takkar  and
K. Kucheria
N. Banerjee
Affiliation:
Department of Obstetrics and Gynaecology
A. Kriplani*
Affiliation:
Department of Obstetrics and Gynaecology
D. Takkar
Affiliation:
Department of Obstetrics and Gynaecology
K. Kucheria
Affiliation:
Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India
*
Addl. Prof. Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, New Delhi – 110 029, India.

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A case of balanced X; autosome translocation 46, X, t (X; 22) (q 24; q 13) in a 25-year-old female with secondary amenorrhea and premature ovarian failure (POF) is described. The relationship between balanced X; autosome translocation [t (X; A)] and varied phenotypic expression observed in these women is discussed. This case highlights the importance of early recognition of these women in order to give them the best chance of conception in their oligohypomenorrhic phase before complete loss of gonadal function.

Keywords

Ovarian failurePrematureX- chromosomeTranslocation – GeneticChromosome-Human pair – 22
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 46 , Issue 4 , October 1997 , pp. 241 - 244
Copyright
Copyright © The International Society for Twin Studies 1997

References

REFERENCES

1. Coulam, CB, Adamson, SC, Annegers, JF (1986): Incidence of premature ovarian failure. Obstet Gynecol 67: 604–606.Google Scholar
2. Cunniff, C, Jones, KJ, Benirschke, K (1991): Ovarian dysgenesis in individuals with chromosomal abnormalities. Hum Genet 86: 552–556.Google Scholar
3. Phelan, JP, Upton, RT, Summitt, RL (1977); Balanced reciprocal X-4 translocation in a female patient with secondary amenorrhea. Am J Obstet Gynecol 129: 607–613.Google Scholar
4. Powell, CM, Taggart, RT, Drumheller, TC, Wangsa, D, Qian, C, Nelson, LM, White, BJ (1994): Molecular and cytogenetic studies of an X; autosome translocation in a patient with premature ovarian failure and review of the literature. Am J Med Genet 52: 19–28.CrossRefGoogle Scholar
5. Sarto, GE, Therman, E, Patau, K (1973): X inactivation in man: A woman with t (Xq-; 12q+). Am J Hum Genet 25: 262–270.Google Scholar
6. Sauer, F, Greenstein, RM, Reardon, PA, Riddick, DH (1977): Secondary amenorrhea associated with balanced X- autosome translocation. Obstet Gynecol 49: 101–104.Google ScholarPubMed