Showing 10 results for Bagherizadeh
A. Abdi, N. Zarbati, M. Asami, I. Bagherizadeh, F. Hadipour, Z. Hadipour, Y. Shafaghati, Farkhondeh Behjati,
Volume 2, Issue 1 (Spring 2017)
Abstract
Intrduction: Ambiguous genitalia is a tragic event, and causes a serious emotional burden to the family. In some cases with this disorder it may cause an urgent medical problem. Precisediagnosis is mandatory for efficient intervention to help the affected patient. Chromosome analysis is the first step in evaluation of the patients with ambiguous genitalia. A chromosomal study is conducted to determine the sex of patients with sexual ambiguity using standard methods. In this method, peripheral blood lymphocyte cells were cultured in a complete RPMI medium, and a high-resolution GTG banding technique was used for studying, and at least 20 chromosomal amplitudes were studied.
Patients Information: Two patients were 46XY and two others had 46XX karyotype. Patients with 46XX karyotype had Congenital Adrenal Hyperplasia (CAH). The ovarian and uterine tissues were normal in them, but they had a ambiguous external male genitalia. In the study of hormones of one of these patients, the amount of 17-hydroxyprogesterone and cortisol was normal, and high levels of aldosterone and potassium were reported. Patients with 46xy karyotype have Complete Androgen Insensitivity Syndrome (CAIS) and have a female female reproductive system. There are no uterine tubes in this group of patients and the testicles are in the abdomen.
Conclusion: Karyotype performance is essential for patients with ambiguous genitalia, in order to investigate the relationship between phenotype and genotype and thus the correct management of patients.
F. Mojtahedi, A. Pooladi, F. Sirati, E. Kaihani, Sh. Akhlaghpour, M. Karimlou, I. Bagherizadeh, M. Fallah, S. Ghasemi Firouzabadi , F. Behjati,
Volume 2, Issue 2 (Summer 2017)
Abstract
Aims: The use of non-invasive laboratory tests based on detection of biomarkers in the blood samples is a good strategy for early diagnosis of breast cancer. The lymphocyte radiosensitivity assessment can be a valuable method to diagnose breast cancer. The objective of this study was to investigate the radiosensitivity indices in sporadic breast cancer among Iranian women and to evaluate the potential of those indices for clinical use in early diagnosis of breast cancer and assessing its susceptibility.
Materials and Methods: The present study is a case-control that was conducted on 32 patients with sporadic breast cancer (patient group) and 30 healthy individuals (control group). The obtained blood samples of both groups were exposed to gamma-irradiation (0.4 Gy) and the level of chromosome breakage was determined based on the G2 chromosome breakage assay protocol. In the metaphase lymphocytes, the percentage of the abnormal cells was calculated as the radiosensitivity index for comparing the two groups. Data were analyzed by SPSS 19 software using student t-test, paired t-test, chi-square and Fisher exact test.
Findings: There was a significant difference in the percentage of the index of the abnormal cells after irradiation between two groups (p=0.001). The area under the curve (AUC) of the percentage of the abnormal cells and odds ratio (OR) were found as 0.725 with 3.818, respectively. The frequency of increased radiosensitivity based on this index (at 61% cut-off point), was 65.6% in the patients and about 33% in the control group.
Conclusion: The increased level of chromosome breakage following irradiation with gamma rays can be used as an early diagnostic biomarker of breast cancer or a possible indicator for breast cancer susceptibility.
F. Hadipour, Z. Hadipour, F. Mousavi, I. Bagherizadeh, Y. Shafaghati, F. Behjati,
Volume 2, Issue 2 (Summer 2017)
Abstract
Patients Information: Considering the clinical importance and the deep impact of Premature Ovarian Failure (POF) on the life of affected people and the important role of genetics in its development, this study was conducted to determine the frequency and type of chromosomal abnormalities in Iranian women referred to Sarem Hospital with premature ovarian failure. Karyotype analysis and its association with phenotype were performed on 13 Iranian women with confirmed premature ovarian failure. The metaphase chromosomes were prepared and analyzed with G-bonding technique and mosaicism of 100 cells from lymphocyte cells was studied. Finally, chromosomal abnormalities were diagnosed in 2 of 13 patients (15.38%) with premature ovarian failure. A patient with chromosomal mosaicism was [42] XX, 46 / [8] X, 45. The second patient had a translocation between chromosome X and chromosome 9, that was 46, XX, t(X,9)(q22.1;q22,1).
Conclusion: The overall prevalence of chromosomal abnormalities is 15.38% among patients with premature ovarian failure, which is confirmed by our findings in the chromosomal examination of these women.
A. Abdi, I. Bagherizadeh , L. Shajare Pour, I. Bahman, Z. Hadi Pour, F. Hadi Pour, Y. Shafaghti, F. Behjati,
Volume 3, Issue 1 (Spring 2018)
Abstract
Aims: Recurrent abortions comprise almost 15% of diagnosed pregnancies. Chromosomal inversions, as a type of chromosomal rearrangements can result in abortion or the birth of abnormal neonates. The aim of this study was to evaluate the prevalence of chromosome inversions (pericentric and paracentric) in patients with recurrent abortions.
Materials & Methods: This descriptive study was conducted on 2299 couples with recurrent abortions referred to Sarem women’s hospital (Tehran, Iran) during 2006 to 2014. The structure of autosomal and sex chromosomes were studied using high resolution GTG banding and C banding techniques.
Findings: In total, 49 (2.1%) patients showed chromosomal inversions. Pericentric inversion around centromere of chromosome 9 (p11.2q13) was observed in 29 patients (1.26%). Chromosomal inversions were found in heterochromatin region of chromosome 1 in one patient and chromosome Y in one other patient. Pericentric inversion of chromosome 2 was also found in one patient. Chromosomal inversion involving other autosomal chromosomes included pericentric inversion of chromosomes 1, 5, 8, 11 and 12, and paracentric inversion of chromosomes 3, 6, 7, 8, and 12 (0.44%).
Conclusion: The prevalence of pericentric and paracentric chromosomal inversions in patients with abortion history is 2.1%. The rate of pericentric inversions of chromosome 9 in p11.2q13regions is 1.26% that is similar to the normal populations and it has no clinical significance.
A. Abdi, I. Bagherizadeh, V. Vand-Rajabpour, Y. Shafaghati, F. Behjati,
Volume 4, Issue 2 (Summer 2019)
Abstract
Introduction: Premature ovarian failure (POF) is defined by ovarian failure, amenorrhea, sex steroid deficiency, and elevated (menopausal) levels of serum gonadotropins before the age of 40 years. Chromosome abnormalities are the cause of 5-10% of POF cases. The aim of this study was to report chromosomal abnormalities, with X chromosome involvement, in two patients with POF, referred to Sarem Hospital in Tehran.
Patients’ Information: Two patients with a POF diagnosis were referred to the cytogenetic laboratory of Sarem Hospital in 2014-20115. The chromosomal analysis of a 16-year-old girl and a 26-year-old woman (both with POF) by high resolution GTG banding technique showed structural chromosome abnormities and 46,X,der(X) and 45,dic(X;22)(q22;p12) Karyotypes were observed, respectively.
Conclusion: Cytogenetic investigation in patients with POF is of great value and highly recommended.
F. Behjati , E. Bagherizadeh , A. Abdi , E. Ghadami, F. Mousavi, E. Saedi, N. Mohammadkhani, F. Vand-Rajabpour, Y. Shafaghati,
Volume 4, Issue 3 (Autumn 2019)
Abstract
Aims: Aminosynthesis is used as a powerful method to identify fetuses with chromosomal abnormalities. In this method, routine karyotyping and the gold standard method is used. The purpose of this study was to evaluate the frequency of prenatal diagnosis of chromosomal abnormalities in amniotic fluid during 2006-2017 in women referred to Sarem Women's Hospital.
Materials & Methods: In this experimental study, a total of 6298 amniotic fluid samples from pregnant women referred to Sarem Women's Hospital diagnosed high-risk were collected after genetic counseling from 2006 to 2017 and were chromosomally evaluated using standard cytogenetic and GTG bonding methods.
Findings: Frequency of referral indications included maternal serum screening 70.8%, advanced maternal age 14.3%, abnormal sonograghy 5.1%, positive history of chromosomal diseases and rearrangements 3.4%, maternal anxiety 1.5% and other 5.0%. The total rate of chromosome abnormality was 5.1%. Chromosomal abnormalities rate for each group was: history of chromosomal rearrangements and diseases 11.2%, abnormal sonograghy 9.7%, advanced maternal age 5.3%, abnormal maternal serum screening test 4.4%, anxiety 2.2%, and other referrals was 5.7%.
Conclusion: Parents who are carriers for chromosomal rearrangements and women with foetal abnormal ultrasonic findings have great risks for chromosomal disorders in their fetuses. This study, as well as others, emphasizes the significance of karyotyping in pregnant woman with abnormal maternal serum screening test, advanced maternal age, history of chromosome abnormality, and abnormal sonograghy.
Farkhondeh Behjati, Seyede Fahimeh Mousavi, Akram Abdi, Fatemeh Vand Rajab Por, Jafar Mehrabi Sisakht, Atefeh Dokhanchi, Ensieh Ghadami, Roghaieh Vahedi, Fatemeh Moghadasi, Leila Shajareh Pour, Kamran Bahadori, Abootaleb Saremi, Eiman Bagherizadeh,
Volume 4, Issue 4 (winter 2020)
Abstract
ABSTRACT
Background and Objective: Infertility is a major health problem affecting 10-15% of couples globally. Genetic factors such as chromosomal abnormalities are one of the major causes of infertility and spontaneous abortions. The aim of this study was to establish the chromosome abnormality and chromosomal variants' rate amongst couples referred for reasons of infertility and subfertility to the Cytogenetics laboratory of Sarem Women’s hospital in Tehran between 2006 and 2017.
Material and methods: In this study, a total number of 6514 patients were referred for chromosomal investigation. The mean age of referral female and male patients were 30 and 34 years, respectively. Referral reasons included infertility, recurrent abortions, and unsuccessful Assisted Reproductive Technologies (ARTs). Heparinized peripheral blood was obtained. Cytogenetic investigation was carried out using standard techniques. GTG high resolution banding technique was used and 20-50 metaphase spreads were studied. CBG, NOR banding, and FISH investigation were carried out if necessary.
Results: The overall chromosome abnormality rate was 5.28 percent (344 out of 6514). The cytogenetic results for these referral couples are as follows: 66 (19.1%) patients had a numerical chromosome abnormality including sex chromosomes and marker chromosomes. 120 (34.9%) patients had structural chromosome abnormalities. 158 (46%) patients had mosaicism with different cell lines.70 (1.07%) patients had an inversion of chromosome 9.
Discussion and Conclusion: Cytogenetic investigation in patients with infertility and subfertility is critical as a first line genetic investigation. The findings of chromosome abnormality are of great value in the better management of the patients.
Mahdieh Pashaei, Akram Abdi, Fahimeh Mousavi, Iman Bagherizadeh, Atefeh Dokhanchi, Ensieh Ghadami, Kamran Bahadori, Abotaleb Saremi, F. Behjati,
Volume 6, Issue 2 (summer 2021)
Abstract
Background and Objective: Consanguinity is defined as the marriage between close relatives. The deleterious effects associated with consanguinity may be caused by the expression of rare recessive genes inherited from common ancestors. Consanguineous marriage is significantly higher in many genetic diseases leading to prenatal, neonatal, child morbidity or mortality. Consanguineous marriage is a common practice in the Middle East including Iran with a rate of 30-85%. The present study was undertaken to analyze the prevalence of chromosomal abnormality (CA) in patients with consanguineous marriages.
Material & Methods: Standard Cytogenetics techniques were carried out on the peripheral blood of 1055 patients with consanguineous marriage. Chromosome analysis was carried out using GTG-banding technique. The patients were referred to the Cytogenetics laboratory of Sarem Women's hospital during 2006-2021. 969 patients were due to genetic counseling for consanguineous marriage and 86 patients with a referral of consanguineous marriage and other reasons comprising of the previous history of recurrent abortions, infertility, intellectual disability, expired child, stillbirth, and a child with chromosome abnormality.
Findings: Chromosomal abnormalities were found in 34 patients (3.22%) out of a total of 1055 patients. Most of the abnormalities were structural (97 %). Chromosomal abnormalities were found in 15 females (44.1%) and 19 males (55.9%). Inversions were the most common chromosomal abnormalities (64.7 %) diagnosed in this study. Pericentric inversion around the centromere of chromosome 9 was observed in 18 cases (1.70 %). Chromosomal inversions were found in the heterochromatin region of chromosome 1 in one case and chromosome 2 in one other case. Paracentric inversion of chromosome 14 was found in one case. One patient had a pericentric inversion of large size in one chromosome 9. Robertsonian translocation was found in three patients. Five patients had reciprocal translocation between two chromosomes. One patient had insertion of an unknown chromosome material within the short arm of chromosome 3. Amongst patients with consanguineous marriage and other reasons, only those with recurrent abortions (3 abnormals) and infertility (1 abnormal) had chromosome abnormalities. Chromosome abnormality rate in individuals referred for consanguineous marriage genetic counseling was 3.09% compared to 4.65% in those referred for consanguineous marriage and recurrent abortions or infertility.
Conclusion: Compared to the rate of chromosome abnormality in the general population of less than 1%, the 3.09% of chromosomal abnormalities rate in consanguineous marriages in this study is high. However, this rate is even higher in individuals with consanguineous marriage and a history of recurrent abortion or infertility, with 4.65%. Due to the high rate of consanguineous marriages in the Iranian population, genetic counseling and chromosome analysis in couples with consanguineous marriage is highly recommended.
Fatemeh Vand-Rajabpour, Fahimeh Mousavi, Roxana Kariminejad, Iman Bagherizadeh, Kamran Bahadory, Sima Giti, Mozhgan Karamniayefar, Farkhondeh Behjati,
Volume 6, Issue 3 (Autumn 2021)
Abstract
Objective: Array comparative genomic hybridization (Array-CGH) has been used in diagnostic laboratories for the evaluation of individuals with intellectual disability/developmental delay, autism spectrum disorders, multiple congenital anomalies/dysmorphic features, prenatal diagnosis, and products of conception. Clinically available whole-genome aCGH can detect unbalanced chromosomal rearrangements/abnormalities with coverage of about one probe per 6 kb to one probe per 70 kb.
Materials and Methods: We report the aCGH results of 142 patients referred to Sarem Cytogenetic laboratory, Sarem Women's Hospital for cytogenetic analysis between 2017 and 2020. They comprised 60 prenatal cases using amniotic fluid, 52 cases of products of conception, and 30 peripheral blood samples for postnatal cases. Chromosome analysis and aCGH were done for most of the referred samples.
Results: Four out of fifty-two aborted fetuses had pathogenic aCGH results including; two male fetuses with gain of whole chromosome 21 (compatible with trisomy 21), one male fetus with a gain of whole chromosome 9 (compatible with trisomy 9), and one female fetus with a pathogenic gain of 78.2 Mb on 13q13.3q34 and loss of 612 Kb on 20p13p13 which overlap with 175 and 7 OMIM genes, respectively. The later aborted fetus's karyotype result is 46,XX ,der(20)t(13;20)(q13;p13) which is originated from the father. Also, five out of sixty prenatal amnion fluid's analysis demonstrated pathogenic chromosomal abnormalities. Ten out of thirty postnatal peripheral blood samples showed abnormal chromosomal aCGH results.
Conclusion: The results of this report emphasize the importance of the combination of classic karyotyping with aCGH in better management of the patients.
Farkhondeh Behjati, Shiva Bayat, Seyede Fahimeh Mousavi, Eiman Bagherizadeh, Akram Abdi, Atefeh Dokhanchi, Sayeh Tehrani, Kamran Bahadory, Sima Giti, Mojghan Karamnia Far,
Volume 6, Issue 4 (Winter 2021)
Abstract
Aims: The aim of this study was to assess the prevalence of different chromosomal abnormalities in amniotic fluid samples of Iranian women referred to Sarem Women's hospital. Besides, to identify different indications of referral and the prevalence of abnormalities in each category, and assigning the abnormality rate to mothers' age, of 35 years and above and less than 35.
Material and Methods: 8245 amniotic fluid samples of women were referred to Sarem women’s hospital from March 2006 to March 2022. After receiving genetic counseling, theywere referred for cytogenetics investigation.
Findings: 4.8% of samples had chromosomal abnormalities of which 70.45% were numerical and 29.55% were structural. The most common numerical abnormality was trisomy 21 accounting for 36.11% of all abnormal cases and 51.25% of numerically abnormal cases. Abnormal Maternal Serum Screening Test (AMSST) was found to be the major indication of referral with 76.5% of all referrals. 46.71 % and 53.29% belonged to the <35 and ≥35 age groups, respectively with trisomy 21 responsible for 45.02% of abnormalities in women of ≥35 age and structural abnormalities of 29.18 % of women <35.
Conclusion: This study emphasizes prenatal screening and cytogenetic testing for chromosomal abnormalities. Furthermore, the high level of both numerical and structural chromosomal abnormalities in women of both age groups highlights the significance of cytogenetic testing for all pregnant women regardless of their age.
