Open AccessA first case of primary amenorrhea with i(X)(qter---q10::---qter), rob(13;14)(q10;q10), inv(9)(p13q33) karyotype
Author(s) -
Seema Korgaonkar,
Kanjaksha Ghosh,
Babu Rao Vundinti
Publication year - 2011
Publication title -
journal of human reproductive sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.484
H-Index - 31
eISSN - 0974-1208
pISSN - 1998-4766
DOI - 10.4103/0974-1208.82362
Subject(s) - proband , karyotype , menarche , short stature , amenorrhea , gynecology , secondary sex characteristic , medicine , genetics , chromosome , pediatrics , biology , pregnancy , hormone , mutation , gene
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.