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Showing 27 results for Karyotype

Seyed M Kalnatar, Ahmad Ebrahimi, Mehrdad Solimani, Hossein Fazli,
Volume 1, Issue 1 (1-2003)

Background: The high fertilization failure after IVF treatment cycles could be related to chromosomal abnormalities. This study was carried out to assess the frequency of chromosomal abnormality on human oocytes lacking signs of fertilization 18-20 h after insemination . Materials and Methods: On day one, 18-20 h after insemination (IVF), fertilization was confirmed when two pronuclei (normal IVF) or more pronuclei (poly pronucleus FR) were present. Chromosomal analysis of unfertilized oocytes was carried out within 20-24 h of collection. All oocyte did not sign of pronuclei were collected from total fertilization failure, TFF (FR=0) or partial fertilization failure, PFF (FR=10-90%). Chromosomal preparation was carried out as described by Tarkowski�s techniques. The average of finding between two groups was compared by X2 test. Results: Chromosome spreading permitted adequate analyzing in 348 unfertilized oocytes. In 33.6% chromosomal aneulpoidy was observed with the following frequencies; hypo-hyploidy, 22/348 (6.4%), hyper-hyploidy, 42/348 (12.2%) and diploidy, 52/348 (15%). The frequency of aneuoplidy was significantly higher in TFF group 33/80 (41%) than PFF group 83/268 (31%), p<0.01, X2. The most frequent numerical aberration was observed in chromosome group, G of the human karyotyped. Conclusion: Since cytogentic analysis of failed fertilized oocytes and sperm function tests are very helpful for direct information on low success rate of fertilization, further studies analyzing on both gametes function in TFF cycles will be needed.
Behrouz Ilkhanizadeh, Mohammad Taghizadieh, Mehrzad Mahzad-Sadaghiani, Farahnaz Noroozinia, Bahman Jahandideh,
Volume 3, Issue 1 (7-2005)

Background: Leydig cell tumor is a rare form of testicular neoplasm which comprises 1-3% of all testicular tumors and only about 3% of these tumors are bilateral. A few Leydig all tumor have been described in patients with klinefelter�s syndrome so far. Case: The patient described in this case report was a 24 year-old man with chief complaint of infertility for one year. Physical examination, semen analysis, testes sonography and hormonal assay were done for him. Right side simple orchiectomy was performed for patient. Conclusion: This tumor is always benign in children and approximately 90% are benign in adults. Clinical presentation is testicular enlargement, gynecomastia, sexual activity disturbances such as decreased libido, infertility and azoospermia. We recommend complete exam and karyotype in patients with infertility and azoospermia.
Razieh Dehghani Firoozabadi, Seyed Mehdi Klantar, Seyed Mohammad Seyed-Hasani, Nasrin Ghasemi, Maryam Asgharnia, Mohammad Hasan Sheikhha,
Volume 4, Issue 1 (7-2006)

Background: Recurrent abortion is a difficult medical problem happening in about 1-2% of fertile women. Most spontaneous miscarriages which happen in the first and second trimesters are caused by chromosomal abnormalities.
Objective: The present study tries to find the rate of chromosomal abnormalities in couples with recurrent pregnancy loss.
Materials and Methods: In total 165 couples were referred to genetic counselling clinic with a history of at least three previous abortions. In all women antibodies against toxsoplasmose, rubella and cytomegalovirus (CMV) were analysed by ELIZA. In 88 couples karyotyping was conducted by analysis of G and/or C banding. Metaphase spreads were made from phytohaemaglutinin-stimulated peripheral lymphocytes using standard cytogenetic techniques. The chromosomal status was analyzed using CytoVision Ultra ver.4.0 from Applied Imaging. The 2-test and ANOVA were used for statistical evaluation. The level of p<0.05 was considered as significance.
Results: Most of the patients had 3 repeated abortions (61.2%). Cytogenetic analysis performed for 88 couples and karyotypes of 12.5% of them were abnormal. The majority of them had monosomy X (6.82%), followed by balanced translocation (2.27%). The number of female carries chromosomal abnormality exceeded significantly than of male. Coefficient of inbreeding in more than 50% of couples had fifth degree of relationship (89 out of 165). Conclusion: Our results showed that 12.5% of the couples with missed abortion had an abnormal karyotype, with no other abnormality. Cytogenetic findings in spontaneous aborted specimens could provide valuable information for genetic counseling and prenatal care in future pregnancies in couples with a history of repeated pregnancy loss.
Zia Eslami, Mohammad Hasan Sheikhha, Seyed Mehdi Kalantar, Seyed Mohammad Seyedhasani,
Volume 5, Issue 3 (7-2007)

Background: Carriers of translocations may have an increased risk of an unbalanced progeny due to imbalances and delays in meiosis.
Case: A 24-year-old pregnant Iranian female was referred to the Genetic Department of Yazd Clinical and Research Centre for Infertility because of her pregnancy history. She had three previous pregnancies, two of which ended in abortion. The one live born infant was a girl who had multiple abnormalities and died when she was 11 days old. The cytogenetic analysis showed that the woman is a carrier of chromosomal translocation 46, XX, t (3; 22) (q21; q12), while her husband’s karyotype was found to be normal. The karyotype of her mother showed the same translocation. The risk of further miscarriages was high, and the proband was monitored closely during her pregnancy. After nine months of pregnancy, a normal baby girl weighted 3460 gr was delivered by Caesarean section. Three hours after birth, the baby suffered from jaundice and respiratory distress. The baby’s phenotype was normal. She received routine treatment successfully and after 15 days she was discharged from the hospital in a good condition. The baby’s karyotype showed the same translocation as her mother and grandmother.
Conclusion: To our knowledge, no translocation with such breakpoints t (3; 22) (q21; q12) has been described previously in the women with RPL.
Sevtap Kilic, Beril Yuksel, Nafiye Yilmaz, Erkan Ozdemir, Ufuk Ozturk, Serdar Ceylaner, Muammer Dogan,
Volume 7, Issue 3 (7-2009)

Background: The aim of this study was to determine the incidence of AZF (Azoospermia Factor) microdeletions of the Y chromosome in infertile Turkish male patients and intracytoplasmic sperm injection (ICSI) outcome of these patients.
Objective: This study was undertaken in order to evaluate the outcome of intracytoplasmic sperm injection (ICSI) in infertil man with AZF microdeletions Materials and Methods: We evaluated 348 azoospermic and oligozoospermic patients retrospectively. Fourty of these patients had various types of AZF microdeletions. These patients had non-obstructive severe oligoasthenospermia or azoospermia with normal karyotype. Azoospermic patients underwent testicular sperm extraction and aspiration (TESE, TESA). Then ICSI was performed to patients who had testicular sperm or ejeculat.
Results: Fourty patients with AZF microdeletion were evaluated in this study. No spermium could be found in 27 patients. Three of these patients had only AZFa microdeletion, three had AZFb microdeletion, three had AZF (b+c), six had AZF (a+b+c) and 12 patients had AZFc microdeletion. Only two of all patients achieved a pregnancy and both had only AZFc microdeletion.
Conclusion: AZFc microdeletions have a better prognosis for achieving spermium in ejaculate or TESE, TESA materials.
Mohammad Reza Nowroozi, Keivan Radkhah, Alireza Ranjbaran, Saeed Reza Ghaffari, Mohammad Ali Sedighi Gilani, Hamid Gourabi,
Volume 8, Issue 5 (7-2010)

Background: The sperm count and function may be affected by karyotype abnormalities or microdeletion in Y chromosome. These genetic abnormalities can probably transmit to the children.
Objective: In this study, we tried to determine the frequency of karyotype abnormalities and Y chromosome microdeletions in severe oligospermic or azoospermic men who fathered sons by ICSI.
Materials and Methods: This study comprised of fathers who had at least a son with ICSI due to severe oligospermia or azoospermia. General examinations were done and blood sample were obtained for karyotype and Y chromosome studies.
Results: The total of 60 fathers was evaluated along with their 70 sons. The mean duration of infertility was 8.7 years and the sons were 2.4 years in average at the time of examination. The mean age of neonates at the time of delivery was 33 weeks; 42.9% were delivered prematurely; and 40.5% of them were twins. 8.6% of the sons had hypospadiasis and 7.1% had UDT. Most of the side effects were due to prematurity. In total 6 of fathers had karyotype anomaly, meanwhile 4 of their sons had also karyotype anomaly. Only one son had karyotype anomaly without affected father. No case of Y chromosome microdeletion was found in the fathers.
Conclusion: Y chromosome microdeletion is not prevalent in fathers with successful ICSI and it is not necessary to be analyzed before ICSI performance. Karyotype anomaly may transmit to the sons. All together ICSI is reliable and safe. Most of the complications are the result of premature delivery.
Neveen Ashaat, Ahmed Husseiny,
Volume 10, Issue 1 (7-2012)

Background: Missed abortion (Silent miscarriage) is defined as intrauterine fetal death before twenty weeks gestation. One of the most common causes of early missed abortions (before 10 weeks gestation) is cytogenetic abnormalities.
Objective: To asses if there is a correlation between chromosomal aberrations (especially in chromosome 7) and missed abortion among at least two generations.
Materials and Methods: After exclusion of direct causes of missed abortion, this study included 60 women (the study group) who had first trimestric missed abortion and 30 healthy women who did not suffer from any diseases during their pregnancy and had apparently normal outcome (the control group). All cases were diagnosed; the blood and tissue samples were collected from the mothers and abortuses from the Department of Obstetrics and Gynecology, Maternity Hospital, Ain Shams University. Cytogenetic analyses were performed by using conventional technique and G/T banding techniques and Fluorescence In Situ Hybridization (FISH) analysis with a whole chromosome 7 painting probe (WCP7) and a 7q subterminal probe (7q36, qter), prepared by chromosome micro dissection technique was used for confirming the specific chromosomal abnormality.
Results: Chromosomal analysis by G-banding technique was carried out in all families through three generations including the abortuses. We found highly statistical significant difference between maternal and abortal abnormal karyotype (p?0.005), where abnormal maternal karyotype was detected in 20% cases, 8.33% of them had insertional translocation between chromosomes 1 and 7 (46, XX, ins. (1; 7) (p32; q32.35). This insertion has appeared in two families and among two generations, and in one family among three generations.
Conclusion: Chromosome 7 insertional translocation is a possible autosomal dominant inherited trait and may cause missed abortion.
Najmeh Jouyan, Elham Davoudi Dehaghani, Sara Senemar, Ashraf Shojaee, Hossein Mozdarani,
Volume 10, Issue 2 (7-2012)

Background: Chromosome abnormality (CA) including Sex chromosomes abnormality (SCAs) is one of the most important causes of disordered sexual development and infertility. SCAs formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth.
Objective: This study describes cytogenetic findings of cases suspected with CA referred for cytogenetic study.
Materials and Methods: Blood samples of 4151 patients referred for cytogenetic analysis were cultured for chromosome preparation. Karyotypes were prepared for all samples and G-Banded chromosomes were analyzed using x100 objective lens. Sex chromosome aneuploidy cases were analyzed and categorized in two groups of Turners and Klinefelter’s syndrome (KFS).
Results: Out of 230 (5.54%) cases with chromosomally abnormal karyotype, 122 (30%) cases suspected of sexual disorder showed SCA including 46% Turner’s syndrome, 46% KFS and the remaining other sex chromosome abnormalities. The frequency of classic and mosaic form of Turner’s syndrome was 33% and 67%, this was 55% and 45% for KFS, respectively.
Conclusion: This study shows a relatively high sex chromosome abnormality in this region and provides cytogenetic data to assist clinicians and genetic counselors to determine the priority of requesting cytogenetic study. Differences between results from various reports can be due to different genetic background or ethnicity.
Tahereh Mirjalili, Seyed Mehdi Kalantar, Maryam Shams Lahijani, Mohamad Hasan Sheikhha, Alireza Talebi,
Volume 11, Issue 1 (4-2013)

Background: Methamphetamine (MA) is a potent psychomotor stimulant with high abuse and addictive potential. MA is a neurotoxic drug which is widely abused by females of childbearing age, raising serious public health concerns in terms of exposure of the fetus to the drug. Neurotoxic effects of MA on adult are well known, such as dopaminergic nerve terminal degeneration and cell death in regions of brain in some doses.
Objective: In the present study, we examined effect of prenatal MA exposure on mouse fetuses.
Materials and Methods: In this study, forty 8-12 week-old NMRI female mice were used which were mated with male mice in serial days. When sperm plug was observed it was designated as gestational day (GD) 0. Pregnant mice were individually housed in plastic cages. Pregnant mice were divided into four groups: in first group 10 mg/kg /day MA, in second group 5 mg/kg /day MA and in third group saline were injected subcutaneously from GD 6 to GD 14, corresponding to organogenesis period, while fourth or control group were without injection. On GD 14 fetuses were removed and accomplished chromosome preparation from fetal liver. Then fetal were fixed in formalin for brain hematoxilin and eosine staining and TUNEL assay.
Results: We observed morphological abnormality including exencephal fetus in 5mg/kg MA group and premature fetuses in 10 mg/kg MA group. Also brain histological study showed subarachnoid hemorrhage in fetal brain in both experimental groups. Fetal liver karyotyping analysis was normal in fetuses of all groups and TUNEL assay in fetal striatum did not show significant difference in number of apoptotic cells between groups.
Conclusion: From our results, it could be concluded that chronic abuse of MA by pregnant females during organogenesis period can cause teratogenic effect and brain hemorrage in fetus.
Cyrus Azimi, Malihea Khaleghian, Farideh Farzanfar,
Volume 11, Issue 4 (6-2013)

Background: The infertility is an important health problem, affecting about 15% of couples. The important role of genetic factors in pathogenesis of infertility is now increasingly recognized. The value of karyotyping women in the routine work-out of couples referred for sterility has long been recommended.
Objective: The aim of this study was to define the frequency of all chromosomal aberrations among women which referred to our department due to infertility during the 21-year period.
Materials and Methods: In this 21-year retrospective study, for the first time, we investigated 896 women which referred to our department due to infertility during 1986 to 2006. For chromosome analysis, heparinized peripheral blood samples were cultured, harvested and banded according to standard methods.
Results: Out of 896 patients, 710 patients (79.24%) had a normal karyotype, and 186 patients (20.76%) showed abnormal karyotype. Among the abnormal ones 48 patients (25.81%) showed Turner's syndrome (45,X), and 45 patients (24.19%) were sex reversal with 46,XY karyotype. The rest of 93 patients (50%) revealed a wide range of chromosome abnormalities.
Conclusion: Our results emphasized the importance of the standard cytogenetic methods in assessing the genetic characteristics of infertile females, which allows detecting a variety of somatic chromosome abnormalities, because some of these may interfere with the success of reproduction.
Mohammad Hasan Sheikhha, Mohammad Ali Zaimy, Saeede Soleimanian, Seyed Mehdi Kalantar, Azam Rasti, Maryam Golzade, Hamid Hoseini Fahraji,
Volume 11, Issue 4 (6-2013)

Background: It has been hypothesized that Y-q microdeletion can account for significant proportion of infertility in men. There are three nonoverlapping regions referred to as the "azoozpermia factors" AZFa, AZFb, and AZFc from proximal to distal part of Y-q. These have been defined as spermatogenesis loci, this region deletions have been shown to be involved in male azoospermic or severe oligoozospermic infertility.
Objective: Evaluation the rate of Y-chromosome microdeletions in infertile men.
Materials and Methods: In this case-control study, 25 azoospermic infertile men candidate for intracytoplasmic sperm injection (ICSI) were selected as case group. For control group, 25 normoozoospemric men were selected. All cases and controls had normal 46XY karyotype. DNA extraction and molecular analysis were done on blood samples. Multiplex-PCR method was done to identify the presence of microdeletion in AZFa, AZFb or AZFc loci. Eight STS primers that include two controls were selected to determine Y-chromosome microdeletions.
Results: 20% (5/25) of all patients have at least one microdeletion in more than one region of AZF loci. Totally 17 microdeletions was observed, one case had deletions in three AZF regions, and 4 cases had deletions in two AZF regions. The rate of deletions was 42% (7/17) for AZFc, 35% (6/17) for AZFa and 23% (4/17) for AZFb.
Conclusion: The molecular DNA analysis could help us to know the real cause of infertility and can give good information for good decision for example in men whit microdeletions who want to undertake ICSI procedure the deletions will be passed to their son.
Tahereh Modarresi, Marjan Sabbaghian, Abdolhossein Shahverdi, Hani Hosseinifar, Ali Asghar Akhlaghi, Mohammad Ali Sadighi Gilani,
Volume 11, Issue 6 (9-2013)

Background: In patients with non-obstructive azoospermia (NOA), vital spermatozoa from the tissue is obtained from testes by enzymatic treatment besides the mechanical treatment.
Objective: To increase the sperm recovery success of testicular sperm extraction (TESE), with enzymatic digestion if no sperm is obtained from testis tissue by mechanical method.
Materials and Methods: Tissue samples were collected from 150 men who presented with clinical and laboratory data indicating NOA by means of TESE and micro dissection TESE methods. Initially, mature spermatozoa were examined for by mechanical extraction technique shredding the biopsy fractions. In cases whom no spermatozoa was observed after maximum 30 min of initial searching under the inverted microscope, the procedure was followed by enzymatic digestion using DNaseI and collagenase type IV. Surgery type, pathology, AZF, karyotype, hormones and testis size were compared in patients.
Results: Of 150 cases with NOA, conventional mincing method extended with enzymatic treatment yielded successful sperm recovery in 13 (about 9%) patients. Comparison of parameters revealed that level of FSH and LH were significantly different (p=0.04 and 0.08 respectively) between two groups that response negative and positive to enzymatic digestion.
Conclusion: The combination of conventional TESE and enzymatic digestion is an effective method to recover spermatozoa. The benefit of the mincing combined with enzyme to sperm retrieval for NOA firstly shorten the mechanical searching time, leading to minimizing further cellular damage as well as exposure to external conditions, and secondly reduce the number of cases with sperm recovery failures. Also, the serum level of FSH and LH are factors that influence the chance of sperm retrieval.
Rubina Tabassum Siddiqui, Nosheen Mujtaba, Mamoona Naz,
Volume 11, Issue 8 (11-2013)

Background: Microdeletions of the azoospermia factor locus of the long arm of Y chromosome are an etiological factor of severe oligozoospermia or azoospermia.
Objective: The aim of this study was to investigate the prevalence of Y-chromosome microdeletions in AZF region and their role in infertility in Pakistani population.
Materials and Methods: The type of deletions in AZF locus were detected in infertile men (n=113) and the association of Y chromosome microdeletions with male infertility was assessed by including men (50) with normal karyotype and having children. Y chromosome microdeletions were detected by multiplex PCR using 10 sequence tagged sites namely sY81, sY130, sY141, sY142, sY155, sY157, sY160, sY182, sY231, and sY202 that covered all three regions of AZF.
Results: Individuals with severe oligozoospermia showed 2.86% deletion frequency in AZFc region as compared to azoospermic males (5.5%).
Conclusion: The results of our study showed that deletions in Y chromosome are not playing major part in male infertility. Moreover, multiplex-PCR strategy might preferably be employed for the detection of Y chromosome microdeletions allied to male infertility.
Fadlalla Elfateh, Ruixue Wang, Zhihong Zhang, Yuting Jiang, Shuang Chen, Ruizhi Liu,
Volume 12, Issue 2 (2-2014)

Background: Wide range of disorders ranging from genetic disorders to coital difficulties can influence male fertility. In this regard, genetic factors are highlighted as the most frequent, contributed to 10-15%, of male infertility causes.
Objective: To investigate the influence of genetic abnormalities on semen quality and reproductive hormone levels of infertile men from Northeast China.
Materials and Methods: 2034 infertile men including 691 patients with abnormal sperm parameters were investigated retrospectively. Semen analysis was performed according to the World Health Organization guidelines. Y chromosome micro deletions were detected by polymerase chain reaction assays. Chromosome analysis was performed using G-banding.
Results: The incidence of abnormal chromosomal karyotype in the patients with abnormal sperm parameters was 12.01% (83/691). The most frequent cause was Klinefelter's syndrome 37.35% (31/83). As the same as chromosomal abnormalities group, the volumes of testes (p=0.000 and 0.000, respectively) and the levels of testosterone (T) (p=0.000), and testosterone/ luteinizing hormone (T/LH) (p=0.000) of patients with Y chromosome micro deletions were significantly lower than those of fertile group. In addition, the levels of follicle-stimulating hormone (FSH) (p=0.000), and luteinizing hormone (LH) (p=0.000) were significantly higher in patients with Y chromosome micro deletions than those in the fertile group. Translocation abnormalities displayed slight effect on sperm motility.
Conclusion: Y chromosome micro deletions and sex chromosome disorders particularly Klinefelter’s (47, XXY), have severe adverse influence on normal hormone levels, testicular volume and sperm count, whereas translocation abnormalities may inversely correlate with sperm motility.
Mir Davood Omrani, Faezeh Azizi, Masoumeh Rajabibazl, Niloufar Safavi Naini, Sara Omrani, Arezo Mona Abbasi, Soraya Saleh Gargari,
Volume 12, Issue 4 (5-2014)

Background: The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries.
Objective:  To evaluate the sensitivity and specificity of MLPA in a cross-sectional descriptive study for the detection of chromosomal aneuploidies in comparison to other methods.
Materials and Methods:  Genomic DNA was extracted from the peripheral blood samples of 10 normal controls and the amniotic fluid of 55 patients. Aneuploidies screening of chromosomes 13, 18, 21, X and Y were carried out using specific MLPA probe mixes (P095-A2). For comparison purposes, samples were also tested by Quantitative Fluorescent-PCR (QF-PCR) and routine chromosomal culture method.
Results:  Using this specific MLPA technique and data-analyzing software (Genemarker v1.85), one case was diagnosed with 45, X (e.g. Monosomy X or Turner’s Syndrome), and the remaining 54 cases revealed normal karyotypes. These results were concordant with routine chromosomal culture and QF-PCR findings.
Conclusion:  The experiment demonstrates that MLPA can provide a rapid and accurate clinical method for prenatal identification of common chromosomal aneuploidies with 100% sensitivity and 100% specificity.
Mohammadreza Dehghani, Elena Rossi, Annalisa Vetro, Gianni Russo, Zahra Hashemian, Orsetta Zuffardi,
Volume 12, Issue 5 (6-2014)

Background: In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females.
Case: Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array Comparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement resulting in the deletion of the distal Xp and the duplication of the proximal Xp contiguous region with presence of the Y chromosome from Ypter to Yq11. Fluorescent in situ hybridization (FISH) showed that this portion of the Y was translocated to the tip of the abnormal X and that the duplicated portion of chromosome X was inverted. Altogether, the abnormal chromosome was a dicentric one with the centromere of the Y chromosome apparently inactivated.
Conclusion: The presence within the translocated Y chromosome of the SRY gene explains the devolopment of testes although it is not clear the reason for the genitalia ambiguity.
Sara Masihi, Mojgan Barati, Razieh Mohamadjafari, Marzieh Hashemi,
Volume 12, Issue 5 (6-2014)

Background: Fetal nasal bone assessment is a non-invasive procedure that helps provide even greater assurance to patients undergoing their first trimester risk assessment for aneuploidies. Absence or presence of this factor is different in some races.
Objective: The study was aimed to evaluate nasal bone in the first trimester of pregnancy in the indigenous population of Khuzestan Province, and to monitor its value in the diagnosis of chromosomal abnormalities.
Materials and Methods: This study was conducted on 2314 pregnant women between 17-43 years old who referred for first trimester screening for chromosomal abnormalities. Gestational age was between 11-13w + 6 days. Nuchal translucency (NT), fetal heart rate (FHR), crown rump length (CRL), and maternal age and maternal blood serum factors (Free βHCG) and pregnancy-associated plasma protein-A (PAPP-A) and nasal bone were assessed. Finally the risk of trisomies was calculated. The statistical tests are based on the relationship between chromosomal abnormality and the presence or absence of the nasal bone.
Results: In 114 cases we could not examine the nasal bone. Also, in 20 cases missed abortion happened without knowing the karyotype. 2173 cases were delivered normal baby, and in seven cases chromosomal abnormalities were diagnosed. Nasal bone was absent in all three cases with trisomy 21 and six of 2173 cases with normal phenotype (0.3%). With use of the Fisher exact test (p=0.0001), a significant correlation was found between the absence of the nasal bone and the risk of chromosomal abnormality.
Conclusion: Inclusion of the nasal bone in first-trimester combined screening for aneuploidies achieves greater detection rate especially in Down syndrome
Fadlalla Elfateh, Dai Rulin, Yun Xin, Li Linlin, Zhu Haibo, Rui-Zhi Liu,
Volume 12, Issue 6 (8-2014)

Background: In some cases infertile men showed small deletions of specific genes in the Y chromosome. It had been confirmed, these deleted genes are greatly associated with spermatogenic failure. However, the frequency and the patterns of such microdeletions among infertile men are not clearly clarified.
Objective: We sought to determine the frequency and the patterns of Y chromosome microdeletions in azoospermic and oligozoospermic infertile men in Northeast China, and try to optimize the selection of sequence tagged sites (STSs) of AZF microdeletions in multiplex polymerase chain reaction (PCR).
Materials and Methods: 720 azoospermic and 330 oligozoospermic infertile men, from Northeast China were included in this retrospective study during May 2008 to November 2012. Semen analysis was performed according to the World Health Organization guidelines. Y chromosome microdeletions were detected by polymerase chain reaction assays. G-banding method was used for chromosome Karyotype analysis. Chi-square tests were used to compare patterns of Y chromosome microdeletions in azoospermic and oligozoospermic patients.
Results: Of 1050 infertile men, 12.95% cases had shown Y chromosome microdeletions, and 19.43% of cases showed abnormal chromosomal karyotype. Deletions in AZFc region was the most frequent 75.00%, followed by deletions in AZFb region 13.33%, AZFbc region 09.62%, and AZFa region 2.22%. All oligozoospermic patients showed presence of sY84, sY86, sY127, and sY134. Deletion of sY127 (p=0.0101) and sY157 (p=0.0043) showed significant difference between azoospermic group and oligozoospermic group.
Conclusion: Deletions of sY127 may relate to azoospermia while sY84, sY86, sY127 can be ignored in AZF screening for oligozoospermic patients.
Mohammad Hasanzadeh-Nazarabadi, Fatemeh Baghbani, Iman Namazi, Salmeh Mirzaee,
Volume 12, Issue 8 (8-2014)

Background: Approximately 205 million pregnancies occur each year in the worldwide. On the other hand, Spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. In order to search for balanced chromosomal rearrangement and cytogenetic disorders, 10 members of related family with consanguinity marriage with the history of recurrent miscarriage were assessed.
Case: Cytogenetic evaluation on the basis G-banding technique at high resolution was performed in 3 couples and their related family with the history of idiopathic RSA in order to postulate any balanced chromosomal rearrangement.
Conclusion: six members of them appeared with robertsonian balanced translocation between chromosome No.21 to No. 14 with the karyotype of 45, XX, t (14, 21) and 45, XY, t (14, 21), which this results are in agreement with several similar works which claimed that the risk of spontaneous abortion in couples with balanced chromosomal rearrangements is higher compared with general population. Considering to results of present study, it seems as if the cytogenetic analysis of couples with the history of recurrent abortions should be suggested compulsory to estimate the probable presence of any chromosomal rearrangement. This offer wills valuable information for genetic consulting.
Fatima Ammar-Khodja, Zohra Hamouli, Fella Boukerbout, Karima Djerroudib,
Volume 12, Issue 12 (12-2014)

Infertility affects approximately 15% of couples worldwide. Within 50% of cases, man provides reproductive function disorders (1). The cause of infertility in men with oligospermia and azoospermia seems to be due to underlying genetic abnormalities (2). Chromosomal abnormalities are one of the causes of human infertility as they interfere with spermatogenesis. The frequency of chromosomal aberrations and specific translocations in infertile men is multiplied by 10 compared with the normal population (3). Hundred patients aged between 26 and 50 years (the middle age 35 years old), oriented by specialized medical structures, are included in our study. All patients were referred for sterility (no spontaneous pregnancy despite >1 year unprotected intercourse). Only couples with infertility primary, in which men had a review of abnormal sperm: azoospermia or severe oligospermia (concentration sperm cells <5×106 ml and mobility <40%) were included in the study. 20 metaphases for each patient were analyzed by GTG banding technique (Giemsa Trypsin G bands). In our sample, there were 76 patients (76%) with an ordinary karyotype of which 5 have a known etiology. The most frequent medical history was a mumps orchitis, testicular ectopia, right and left inguinal testicles, or a bilateral varicocele. For patients without obvious etiology, it was important to mention the environmental and other genetic factors unidentified within the limits of the used technique. The chromosome abnormality rate was 24%; the numerical type 21% and structural type 3%. The chromosomal aberrations found in this study, were gonosomal (21/24: 87.5%) and autosomal 3/24: 12.5%). In 64.2% (18/28) of patients the azoospermia was determined by aneuploidy 47, XXY (Figure 1). Subjects 47, XXY (18/100 patients: 18%) had clinical signs or a complete picture mentioning Klinefelter syndrome. Aneuploidy 47, XYY was identified in three patients with the oligoasthénospermia (Figure 2). The Robertsonian translocations 45,XY,der (13)(14) (Figure 3) and reciprocal translocation 46, XY t(3q-10q) (Figure 4) explain oligozoospermia and oligoasthenoteratospermia. These findings are in accordance with those from other surveys and confirm that the XXY aneuploidy is the most frequent chromosomal abnormality in azoospermic individuals. The correlation is established between the karyotypic abnormalities and sperm characteristics. A review of the literature of somatic chromosome investigations in infertile males has shown that 10-15% of azoospermic males and 4-5% of oligozoospermic males have an abnormal karyotype. In the first group, sex chromosome abnormalities predominate (mainly 47,XXY), whereas in the latter, autosome anomalies (i.e. Robertsonian and reciprocal translocations) are the most frequent. However, the prevalence of somatic chromosomal abnormalities in male sterile population has been reported and varies in different studies and populations. For example, the prevalence of chromosomal abnormalities in Dutch or Italian infertile population is respectively 3.1% and 3.95 (4). In Iran, cases with an abnormal karyotype were 13.96% (5). The frequency of chromosome abnormalities appears higher in some Ammar-Khodja et al 836 Iranian Journal of Reproductive Medicine Vol. 12. No. 12. pp: 835-836, December 2014 countries. Thus, this frequency in infertile men from western Mexico and eastern Turkey is respectively 18.9% and 23.26% (6, 7). In Estonia, total chromosome alterations were revealed in 47.8% of infertile men (8). Interestingly, our present study shows a higher percentage of chromosomal abnormalities (24%) in comparison with previous reports where the range was between 10 and 15% (9). These frequency variations can be explained by the choice of recruitment criteria based on the results of spermiograms (azoospermia or severe oligospermia: concentration sperm cells <5×106 ml). The abnormal gonosome number (XXY) in patients with azoospermia was higher than in patients with severe oligozoospermia. Our results confirm the data of different literature sources that certify that sex chromosome abnormalities are the privilege of azoospermia. Indeed Klinefelter's syndrome in its homogeneous form (47, XXY) representing the most common aneuploidy (85.7%: 18/21). 47,XYY is a sex chromosomal abnormality observed in humans, with a prevalence of 0.1% of male births. This abnormality can be characterized by oligoasthenoszoospermia and it’s relatively uncommon and can miss clinically because of its variable clinical presentations (10). Our study reported a higher percentage of 3%. The reciprocal translocations are the most frequent structural chromosomal anomalies in oligozoospermia). In our study, two patients with Robertsonian translocation 45, XY, der (13)(14) were suffering from oligospermia. The balanced translocation 46, XY t(3q)(10q) has been identified in one patient with oligoasthenozoospermia. Acknowledgments We thank the Pr Guichaoua (Department of Reproductive Biology: Conception Hospital, Marseille), the Dr. Zerouala (Private Clinic Algiers), the clinic personnel and the patients involved in this research. We thank Dr. Farid Cherbal for reading the manuscript.

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