Journal of Human Reproductive Science
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CASE REPORT Table of Contents   
Year : 2011  |  Volume : 4  |  Issue : 1  |  Page : 53-55
A first case of primary amenorrhea with i(X)(qter---q10::---qter), rob(13;14)(q10;q10), inv(9)(p13q33) karyotype


Department of Cytogenetics, National Institute of Immunohematology (ICMR), KEM Hospital Campus, Parel, Mumbai, India

Correspondence Address:
Babu Rao Vundinti
Department of Cytogenetics National Institute of Immunohematology (ICMR), 13th Floor, New Multistoried Building,K.E.M. Hospital Campus, Parel, Mumbai
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-1208.82362

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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.


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