>Objective(s): Primary and secondary amenorrhea are different from each other in that the former refers to a physiological failure in the onset of spontaneous menarche during the time when it is expected. whereas the latter involves the cessation of normal menstruation any time prior to menopause. In this study we aimed to investigate chromosomal abnormalities in patients with Primary Amenorrhea in Northeast of Iran by employing GTG banding. >Materials and Methods: Chromosomal analysis was carried out on 180 cases that were referred from different clinics in eastern cities of Iran to our laboratory from 2004 to 2009. We implemented the suggested protocol regarding peripheral blood lymphocyte culture for metaphase chromosome preparation as well as conventional analysis for G-banded chromosome. >Results: The karyotype results revealed that 75.55% (n=136) had normal chromosome composition and 24.45% (n=44) showed chromosomal abnormalities. Among the patients with abnormal chromosome constituents 86.36% exhibit numerical aberration and 13.63% showed structural abnormalities. The most frequent abnormality detected was X chromosome monosomy, homogeneous (21 cases –11.66%) or mosaic (8 cases – 4.44%). The other 6 cases (3.33%) had X chromosome structural imbalanced abnormalities (homogeneous or in mosaic). >Discussion: As expected, this study confirmed previously reported cytogentic abnormalities in patients with amenorrhea. Although there are percentage differences between these studies and also verities in chromosomal abnormalities, they have still demonstrated the importance of cytogenetic investigations in the etiological diagnosis of amenorrhea.
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