RESUMO
Background: Amenorrhea is defined as the absence of menstruation at the reproductive age of women. Amenorrhea caused by various etiological factors including genetic factors, intrauterine malformations, endocrine dysfunction, and environmental factors. Genetic factors particularly chromosomal abnormalities are the main cause of Amenorrhea. This study was performed to estimate the frequency and types of chromosomal abnormalities in patients with amenorrhea in the northeast of Iran. Methods: A total of 381 women with the history of amenorrhea participated in this study. Peripheral blood lymphocyte cultures were performed according to the standard GTG banding method. Results: 296 (77%) of a total of all cases had a normal karyotype (46, XX) while 85 patients (23%) had abnormal karyotype. The numerical and structural abnormalities of X chromosome were observed in 52 (61%), the abnormalities of Y chromosome were observed in 23 (27.2%) and rearrangements between autosomal and/or sex chromosomes were observed in 10 (11.8%). Conclusion: The present study revealed that cytogenetic study is essential for early diagnosis and treatments of Amenorrhea.
RESUMO
BACKGROUND: Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs). The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously. MATERIALS AND METHODS: In this retrospective study, the pattern of chromosomal aberrations was evaluated during a six-year period from 2005 to 2011. The population under study was 728 couples who attended genetic counseling services for their RSAs at Pardis Clinical and Genetics Laboratory, Mashhad, Iran. RESULTS: In this study, about 11.7% of couples were carriers of chromosomal aberrations. The majority of abnormalities were found in couples with history of abortion, without stillbirth or livebirth. Balanced reciprocal translocations, Robertsonian translocations, inversions and sex chromosome aneuploidy were seen in these cases. Balanced reciprocal translocations were the most frequent chromosomal anomalies (62.7%) detected in current study. CONCLUSION: These findings suggest that chromosomal abnormalities can be one of the important causes of RSAs. In addition, cytogenetic study of families who experienced RSAs may prevent unnecessary treatment if RSA are caused by chromosomal abnormalities. The results of cytogenetic studies of RSA cases will provide a standard protocol for the genetic counselors in order to follow up and to help these families.
RESUMO
Reciprocal translocations represent one of the most common structural rearrangements observed in humans. Estimates of the population frequency range from 1/673 to 1/1000. We have described two novel balanced translocations in two unrelated families who experienced Recurrent spontaneous abortions (RSA) following their separate non-consanguineous marriages. Initial cytogenetic studies were performed on cultured blood cells. High resolution GTG-banding analysis using cytovision software performed on their chromosomes revealed a novel balanced translocation t(8;11)(p23;q21) in a brother (45 years) and his sister (27 years) in one family. The second novel balanced translocation t(6;16)(q26;p12) was observed in a consanguineous couple with 4 RSA. These two families have an increased risk of having children with unbalanced karyotypes or RSA, because of incorrect chromosomal segregation during meiosis.
