Novel X-chromosomal defect associated with abnormal ovarian function
Article first published online: 12 JAN 2005
Journal of Obstetrics and Gynaecology Research
Volume 31, Issue 1, pages 12–15, February 2005
How to Cite
Rao, L., Babu, A., Padmalatha, V., Kanakavalli, M., Deenadayal, M. and Singh, L. (2005), Novel X-chromosomal defect associated with abnormal ovarian function. Journal of Obstetrics and Gynaecology Research, 31: 12–15. doi: 10.1111/j.1447-0756.2005.00235.x
- Issue published online: 12 JAN 2005
- Article first published online: 12 JAN 2005
- Received: December 1 2003. Accepted: October 8 2004.
- cytogenetic analysis;
- fluorescence in situ hybridization analysis;
- premature ovarian failure;
- X-chromosome defect
Premature ovarian failure (POF) may be idiopathic or may be associated with genetic or autoimmune disorders. It is well known that chromosomal defects can impair ovarian development and its function. It is estimated that X-chromosome abnormalities occur in 10–25% of women with abnormal ovarian function. Of these, the common chromosome defects reported are either true Turner's karyotype or its variants. We describe a novel X-chromosome aberration in a woman with primary amenorrhea. Cytogenetic and florescence in situ hybridization analysis revealed a short-arm deletion of X-chromosome as a Turner's variant [mos,45,XO/46,Xdel(X)(p11.1–p22.3)]. This interesting and rare case with unique X-chromosome defect reveals an additional mechanism for the cause of POF.