A first case of primary amenorrhea with i(X)(qter---q10::---qter), rob(13;14)(q10;q10), inv(9)(p13q33) karyotype

• Main Authors: Seema Korgaonkar, Kanjaksha Ghosh, Babu Rao Vundinti
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2011-01-01
• Series: Journal of Human Reproductive Sciences
• Subjects: Primary amenorrhea; short stature; translocations; inversions; multiple chromosomal abnormalities
• Online Access: http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2011;volume=4;issue=1;spage=53;epage=55;aulast=Korgaonkar

Primary amenorrhea (PA) refers to the absence of menarche by the age of 16-18 years although secondary sexual characters are developed. PA occurs in 1-3% of women in the reproductive age group. Various factors such as anatomical, genetic and hormonal factors reported to influence PA. We report triple chromosomal abnormalities of rob(13;14)(q10;q10),inv(9)(p13q33), i(Xq)(qter---q10::---qter) in a case of PA and short stature. Though proband has multiple chromosome aberrations, genotypic effect of only i(Xq) is evident as proband has PA and short stature. The rob(13;14) and inv(9), which are paternally derived may have role in later reproductive age. Therefore, chromosomal analysis is essential in such cases for the accurate diagnosis and management of the disease.