title: A first case of primary amenorrhea with i(X)(qter---q10::---qter), rob(13;14)(q10;q10), inv(9)(p13q33) karyotype.
abstract: 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.
authors.affiliation: Department of Cytogenetics, National Institute of Immunohematology (ICMR), KEM Hospital Campus, Parel, Mumbai, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Korgaonkar
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Babu Rao
authors.initials: BR
authors.lastname: Vundinti