Pattern Of Chromosomal Abnormalities Research Articles

Patterns of chromosome abnormalities in a sample of Colombian patients with chronic myeloid leukemia

Chronic Myeloid Leukemia (CML) is characterized by the presence of the Philadelphia (Ph) chromosome, resulting from a translocation between chromosomes 9 and 22 that gives rise to the BCR-ABL1 fusion gene. The Ph chromosome is present in 95 % of CML cases. In 5 %-10 % of these cases Ph variants occur and, approximately 5 % of these cases present with additional chromosomal abnormalities (ACAs). In this work we describe the prevalence of chromosome abnormalities in a sample of Colombian CML patients. A descriptive cross-sectional study was conducted, analyzing cytogenetic and molecular data from 142 CML patients. Data were collected between 2016 and 2019 at the laboratory of Biogenética Diagnóstica S.A.S. Among the 142 patients were analyzed, 56 % were male, and the average age was 45 years. The Ph chromosome was observed in 81 % of the cases. Three-way chromosome variants involving chromosomes 3, 7, and 8 were detected. The most frequent additional chromosomal aberration was +der(22)t(9;22). Atypical patterns associated with poor prognosis were found, via FISH analyses, in 88.2 % of the patients. The BCR-ABL1 fusion gene was detected in 100 % of the 18 patients subjected RT-PCR tests. This retrospective study reveals intriguing findings regarding chromosomal abnormalities in Colombian patients with CML, including rare three-way chromosome variants and atypical FISH patterns associated with a poor prognosis.Further investigation is warranted to explore the clinical implications, prognosis, and survival outcomes associated with these cytogenetic findings in CML patients.

Prevalence and patterns of chromosomal abnormalities in patients suspected of genetic disorders: insights from a study in Ouagadougou, Burkina Faso.

Chromosomal abnormalities contribute significantly to human morbidity and mortality, leading to various pathologies. This study aimed to assess the prevalence of chromosomal abnormalities among patients suspected of genetic disorders in Ouagadougou, Burkina Faso. A descriptive cross-sectional study was conducted from January 1, 2018, to July 16, 2021, involving patients from different university hospitals in Ouagadougou. Blood samples were collected at Hôpital Saint Camille de Ouagadougou (HOSCO) and sent to the Cerba laboratory in France for cytogenetic analysis. A total of 61 cases with suspected genetic disorders were referred for cytogenetic examination. The average age of the patients was 26.81 years ± 18.92, ranging from 1 month to 68 years. Among the cases, 37 (60.65%) exhibited chromosomal abnormalities. Structural abnormalities were the most prevalent (78.38%), while number anomalies accounted for 21.62% of the cases. Chronic myeloid leukemia was detected in 59.45% of cases, followed by free and homogeneous trisomy 21 (18.91%) and sexual inversion (8.10%). Additionally, one case each of Turner syndrome and Klinefelter syndrome were identified. This this study revealed a high frequency of chromosomal abnormalities, with a predominance of structural abnormalities, among patients suspected of genetic disorders in Ouagadougou. The findings emphasize the significance of genetic evaluation and counseling services in the region, particularly for autosomal abnormalities.

Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients.

Amenorrhea is a rare reproductive medical condition defined by the absence of menstruation during puberty or later life. This study aims to establish the frequency and pattern of chromosomal abnormalities (CA) in both primary amenorrhea (PA) and secondary amenorrhea (SA), and further to detect the genetic changes in exon 10 at nucleotide positions 919 and 2039 of the genotypes Thr307Ala, and Asn680Ser, respectively. This cross-sectional study was conducted on a sample of seventy amenorrhoeic women according to the Helsinki declaration rules of medical ethics, as divided into 40 (57.14%) with PA and 30 (42.86%) with SA, and 30 healthy women with normal menstruation as the control. The chromosomal karyotyping was performed according to the ISCN, 2020. PCR products were submitted to RFLP and Sanger sequencing for women with normal karyotype and high FSH serum levels. The classical Turner Syndrome was the most common CA in PA, followed by isochromosome X [46, Xi(X)(q10)], mosaicism of Turner and isochromosome X [45, X /46, Xi(X)(q10)], sex reversal (46, XY) and (46, XX,-3,+der3,-19,del 19 p). Abnormal SA cases were characterized by mosaicism Turner syndrome (45,X/46,XX) and (46,XX,-3,+der3,X,+derX). The homozygous genotypes AA and GG of Ala307Thr (rs6165) in the FSHR gene are most common in PA, while the homozygous genotype AA is more common in SA. GG and AG genotypes of Ser680Asn (rs6166) are more frequent in Iraqi patients with PA and SA compared to the healthy control women. Both PCR-RFLP and Sanger sequencing indicated a marked matching between genotypes. The study emphasizes the need for cytogenetic analysis to determine the genetic basis of PA and SA. Further, genotyping for women with normal karyotype and high FSH serum concentrations via PCR-RFLP should be considered for the precise diagnosis and development of appropriate management of and counselling for these patients.

Fluorescent in situ hybridization (FISH)—a quick screening tool for female children with palpable gonads for excluding androgen insensitivity syndrome

BackgroundThe incidence of inguinal hernia in the pediatric population is 0.8–4.4% with a male to female ratio of 5:1.The reported incidence of sliding hernia containing an ovary in female infants and children is 15–20%.The complete androgen insensitivity syndrome occurs in 1–2% of girls with an inguinal hernia. Thus, the incidence of CAIS in females with hernias and palpable gonads is 4/1,000,000.ResultsThis is a retrospective analysis of 694 children that had undergone inguinal hernia repair in last 11 years. Out of these, 123 were females, 36 cases had palpable gonads at the time of presentation. FISH analysis was done in 29 cases (80%). None of the cases showed the presence of the Y chromosome. An abnormal chromosomal pattern was seen in one case on complete karyotyping.ConclusionThe reported incidence of CAIS in girls with inguinal hernia is low, thus subjecting every girl child with inguinal hernia to undergo karyotyping is distressing for the parents. FISH analysis is an effective screening modality to rule out CAIS in girls with an inguinal hernia. Thus, it is recommended to screen only high-risk cases with palpable gonads at presentation.

Frequency and pattern of chromosomal abnormalities in acute myeloid leukemia from Western India: A retrospective study

Chromosomal abnormalities play an important role in diagnosis and prognosis of hematological diseases. The aim of the present study was to study the pattern and frequency of chromosomal aberrations in acute myeloid leukemia (AML) subgroups from western India. A retrospective study was conducted through evaluating laboratory proforma which were filled during 2005 to 2014 for diagnosis and treatment of AML subjects. We have studied chromosomal aberrations in 282 subjects with AML from western India. AML patients were sub-grouped according to FAB classification. Cytogenetic study using conventional cytogenetics (GTG-banding) and Fluorescence in situ hybridization (FISH) was carried out using FISH probes (AML1/ETO, PML/RARA, CBFB). Student's t test for continuous variables and Pearson's Chi-squared test for categorical variables were used to identify the relationship between variables. Cytomorphological study revealed AML- M3 as most frequent (32.3%) group followed by AML-M2 (25.2%) and AML-M4 (19.9%). Chromosomal abnormalities were identified in 145 (51.42%) of the total AML cases. A high frequency (38.6%) of chromosomal abnormalities was identified in AML-M3 subgroup as compared to AML-M2 (31%) and AML-M4 (20.6%). Cytogenetic study is important for the diagnosis and management of the AML patients. Our study identified chromosomal abnormalities in AML subgroups with varied frequencies. It is important in diagnosis and monitoring of the disease. As younger AML patients were more affected in our study, etiological factors such as environmental factors need to be studied. Combination of conventional cytogenetics and FISH has an advantage of identifying high frequency of chromosomal aberrations in AML patients.

In terms of the PCR-RFLP technique, genetic screening of Ala575Val inactivating mutation in patients with amenorrhea

When mutation is inactivated in the follicle-stimulating hormone receptor (FSHR) gene of patients with amenorrhea, the receptor’s functionality is abolished by completely blocking it, altering the ligand–receptor complex or altering the essential hormone signal transduction. This study aims to detect the frequency and pattern of chromosomal abnormalities and the presence of inactivating mutations (Ala575Val) at position 1540 of the FSHR gene in Iraqi women diagnosed with secondary amenorrhea (SA) and primary amenorrhea (PA). This cross-sectional study was carried out between February and August 2022. Depending on the initial diagnosis of amenorrhea, women were split into two groups: PA and SA. The polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) was done for those women with normal karyotyping and hypergonadotropic hypogonadism [follicle stimulating hormone (FSH) > 20 mIU/ml] to determine the genetic cause, such as inactivating mutation in Exon 10E. The FSH of blood in study patients with PA was 72.28 ± 23.60, luteinizing hormone (LH) was 20.60 ± 13.55, and BMI was 24.012 ± 4.06. In SA, the FSH, LH, and BMI values were 69.821 ± 35.95, 16.788 ± 14.12, and 26.12 ± 4.37, respectively. Also, highly significant differences were observed compared with healthy control subjects (P-value < 0.005). The high matching between the results obtained by PCR-RFLP and those obtained by Sanger sequencing techniques used in this study confirmed no detected mutation in Ala575Val at position 1540 in all patients with PA and SA. The study concluded that in the PCR study, Ala575Val encoding genes are highly detected, while in PCR-RFLP, no action of MscI restriction enzyme in position 1540 (region of Ala575Val genotype) has emerged. This gives the impression that women with amenorrhea in the Iraqi population might not have any inactivating mutations in the FSHR gene.

Fishing for ETV6/RUNX1 fusion and MLL gene rearrangements and their additional abnormalities in childhood acute lymphoblastic leukemia patients of Kashmir

ObjectiveEvidence suggests that ETV6/RUNX1 translocation in pediatric acute lymphocytic leukemia shows geographical variation. Therefore, the present study aimed at unveiling the incidence of ETV6/RUNX1 fusion in pediatric acute lymphocytic leukemia cases of this region using fluorescent in-situ hybridization. Besides, we aimed to determine the incidence of MLL gene rearrangement and the pattern of chromosomal abnormalities in this study group. MethodsSamples from 57 acute lymphocytic leukemia cases of pediatric age group were subjected to fluorescent in-situ hybridization and conventional cytogenetic analysis using standard methods. ResultsConventional cytogenetic analysis revealed chromosomal abnormalities in 19.3% cases. The other major chromosomal abnormalities reported were monosomies in 10.5%, hypodiploidy in 7%, marker chromosomes in 3.5% and deletions in 3.5% cases. We found a 44,XX,-7,-18, r(5), i(17q) complex karyotype in one of the cases. Fluorescent in-situ hybridization analysis revealed ETV6/RUNX1 translocation to be present in 28.07% cases and MLL gene rearrangement in 3.5% cases. 12.5% of ETV6/RUNX1 fusion positive cases were found to have a loss of ETV6 allele. Besides, 8.8% cases were found to exhibit a signal pattern suggestive of RUNX1 amplification. ETV6 gene deletion and MLL gene amplification was detected in 3.5% cases each, of our study. ConclusionsFrequency of ETV6/RUNX1 fusion oncogene was found to be higher in pediatric ALL cases of Kashmir region as compared to that reported from other parts of India. Besides, a case was found to have a karyotype viz 44,XX,-7,-18, r(5), i(17q) that has not been reported elsewhere in the childhood ALL.

The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study.

Chromosomal abnormalities are more common in first trimester recurrent miscarriages (RM). Chromosomal anomalies affect approximately 2%-8% of couples with RM. Evaluate the spectrum and the frequencies of chromosomal anomalies in RM. A retrospective hospital record-based descriptive study. A tertiary care center in Turkey. We studied couples with RM between October 2020 and January 2022. Relevant family and medical history, clinical examination and the results of karyotype were statistically analyzed. Prevalence and types of chromosomal aberrations in couples with RM. SAMPLE SİZE: 362 couples with a history of RM RESULTS: Among the 362 couples, 14 cases (3.86%) had chromosome abnormalities. Eight cases (57.14%) were structural anomalies and six cases (42.86%) were numerical chromosomal aberrations. We found five balanced translocations (67.5%) and three Robertsonian translocations (37.5%). The prevalence of polymorphic variants was 51/362 (14.1%). This study supports the conclusion that clinicians should understand the importance of chromosome analysis in these couples and direct them to karyotyping after two abortions in order to exclude the possibility of a genetic cause of RM. Single-center study and retrospective. None.

Prevalence and patterns of chromosomal abnormalities among Egyptian patients with infertility: a single institution\u2019s 5-year experience

BackgroundChromosomal abnormalities represent an important cause of human infertility. Little is known about the prevalence of chromosomal abnormalities among Egyptian couples with infertility. We estimated the cytogenetic profiles and semen analysis patterns among infertile couples. We analyzed data from medical archives of 2150 patients with infertility in Mansoura University Children’s Hospital, Egypt from 2015 to 2019. The data included karyotypes and semen analysis reports.ResultsChromosomal abnormalities were reported in 13.5% of infertile patients (290/2150); 150 out of 1290 (11.62%) males and 140 out of 860 (16.28%) females. Within the infertile males, the numerical chromosomal abnormalities were detected in 134/1290 (10.38%) males, and structural abnormalities were found in 16/1290 (1.24%) males. Within the infertile females, numerical sex chromosome abnormalities were detected in 75/860 (8.72%) females, structural sex chromosome abnormalities were found in 31/860 (3.6%) females, mosaicism of the sex chromosome was found in 22/860 (2.56%) females, and male pseudohermaphrodites were detected in 12/860 (1.39%) females.ConclusionsNumerical chromosomal aberrations are the most frequent patterns among infertile couples. Attention should be paid to the traditional chromosomal analysis as an important diagnostic step in the infertility work-up.

Proportion and Pattern of Chromosomal Abnormalities in Primary Amenorrhea in Kerala- A Retrospective Study

Introduction: Primary amenorrhoea may be due to chromosomal abnormalities and identification of these abnormalities is important for counselling and management of these individuals. Aim: To identify the prevalence of chromosomal abnormalities in a cohort of primary amenorrhoea patients and to evaluate the various pattern of chromosomal abnormalities. Materials and Methods: This retrospective study was conducted at Government Medical College, Thiruvananthapuram, Kerala, India (serves as a referral centre for most of south Kerala and adjoining districts of Tamil Nadu), from January 2013 to December 2020. All phenotypically females, in the age group of 15-30 years, attending the Genetic Clinic with a diagnosis of primary amenorrhoea were evaluated with karyotype from peripheral blood as per the standard protocol. An abstraction proforma was used to collect the data from the master case sheet available in the genetic laboratory. Cytogenetic abnormalities were described as per the standard International System for Human Cytogenomic Nomenclature (ISCN). For statistical analysis, proportion of cases with chromosome abnormality in the cohort was described as percentage. Results: Chromosomal analysis revealed 25.5% (38 out of 149) with abnormal karyotype. Among the abnormalities, the most common abnormality was 45, X (12, 31.6%) Turners syndrome. Other abnormalities included sex reversal female (46, XY) in six (15.8%), isochromosome Turner syndrome in five (13.1%), partial deletion in X chromosome in three (7.8%) and various combination of mosaic pattern in nine (23.7%) cases. Hypergonadotropic hypogonadism was significantly associated with chromosomal abnormality. Conclusion: Cytogenetic abnormality is a cause for primary amenorrhoea in a significant proportion of cases and karyotype should be an integral part of evaluation in such cases. In resource limited settings, karyotype is having more clinical utility in cases with hypergonadotropic hypogonadism.

Cytogenetics in Acute Lymphoblastic Leukaemia Patients: A Retrospective Study from a Teaching Hospital in Karnataka, India

Introduction: Cytogenetic assessment is an essential test in patients with Acute Lymphoblastic Leukaemia (ALL), as it is required for diagnosis, treatment and to know the prognosis. Although these tests are done as standard of care in most of the institutes, there are limited publications from India describing karyotypic abnormalities in ALL patients. Aim: To assess the various cytogenetic abnormalities encountered in patients suffering from ALL and to know the pattern of chromosomal abnormalities. Materials and Methods: The present study was a retrospective cross-sectional study done at a tertiary care teaching hospital in Karnataka, India. Patients who were diagnosed with ALL based on flow cytometry between January 2017 and June 2021 were included in the present study and total 61 patients were evaluated for the cytogenetic findings. The medical records of these 61 patients were reviewed to collect their details like age, sex, immunophenotype and cytogenetic findings. Results: During flow cytometry analysis, side scatter vs CD45 expression strategy was applied. Events with low side scatter and dim CD45 expression (blast gate) were gated. Leukaemias expressing precursor markers (CD34/HLA-DR) along with cytoplasmic/surface CD3 were diagnosed as T-ALL. Leukaemias with precursor markers along with any two out of three B-cell markers i.e CD19, CD79a or CD10 were diagnosed as B-ALL. In this study 13 patients out of 35 had normal karyotype and this was the most common cytogenetic finding. The most common cytogenetic abnormality in B-ALL patients was hypodiploidy, but t(9;22) (q34;q11.2) was the most common cytogenetic abnormality in adult patients with B-ALL. Among the patients with T-ALL, only 2 (15.38%) patients had chromosomal abnormalities. Conclusion: The present study highlights the role of cytogenetics in patients undergoing treatment for ALL. Chromosomal abnormalities like t(9;12) (q13;p11.2), t(X;1) (q13;p36.1) and t(9;15) (p13;q11.2) are novel chromosomal abnormalities which were found in the present study. Long-term follow-up is necessary to identify prognostic implications of such chromosomal abnormalities.

The prevalence and patterns of chromosome abnormalities in newborns with major congenital anomalies: A retrospective study from Saudi Arabia.

Congenital anomalies are a worldwide health problem that places a burden on the family and society. Chromosome abnormalities are one of the leading causes for congenital anomalies in newborns. Despite the remarkable development in cytogenetic services in the past years, still there are limited data from Middle East countries. The current study aimed to evaluate the prevalence and patterns of chromosomal aberrations in newborns admitted to the neonatal intensive care unit (NICU) with major congenital anomalies at Medina province in the western region of Saudi Arabia. Out of 2,541 live births, 150 newborns were selected based on the presence of major birth defects. Demographic and clinical data were collected from hospital medical records and statistically analyzed. The prevalence of major congenital anomalies was 10.7/1,000 live births (95% CI: 9.076- 12.583). The most common congenital anomalies in descending order were congenital heart disease, musculoskeletal and chromosome abnormalities. The birth prevalence of chromosome abnormalities was 4.22/1,000 live births (95% CI: 3.211-5.441). The most common chromosome abnormality was Down syndrome-nondisjunction type (66%). Advanced parental age was strongly associated with chromosome aberrations (p < 0.001) while consanguinity was evident in cases with normal karyotype (p < 0.001). High birth prevalence of chromosome abnormalities in newborns with congenital anomalies in Al Madinah was evident and advanced parental age is a potential risk factor. A local registry system for congenital anomalies is highly recommended to provide proper health services to high risk families.

A novel SRD5A2 mutation in an Iranian family with sex development disorder.

Disorders of sex development (DSD) are different types of conditions that their accurate diagnosis by using conventional phenotypic and biochemical approaches is a challenging issue. Precise determination of DSD is critical due to the detection of possible life-threatening associated disorders. It may also assist parents in choosing the most suitable management for their affected child. In this study, two affected kids born from consanguineous families who were clinically diagnosed for sex development disorder were investigated for the main cause of the disease. Biochemical analysis failed to make an accurate diagnosis. Karyotype analysis showed an abnormal sex chromosome pattern. Whole exome sequencing was sequentially applied to precisely ascertain the genetic cause of the disease. A novel deletion, g.40936_53878del12943insTG (NG_008365.1), and one known mutation, c.586G>A (p.Gly196Ser), were detected in SRD5A2 gene in case I and case II respectively. Further analysis was performed using polymerase chain reaction, primer walking and Sanger sequencing to detect the nucleotides changes accurately. Segregation analysis in the families confirmed 13kb novel homozygous deletion of SRD5A2 in case I and c.586G>A in case II. The present study confirms the diagnostic value of whole exome sequencing in the detection of DSD aetiology, especially when several differential diagnoses are possible.

Хромосомный микроматричный анализ абортивного материала

Цель исследования - оценить распространенность и типы хромосомных аномалий (ХА) в абортивном материале за период с 2015 по 2019 гг. Методом хромосомного микроматричного анализа был исследован 2201 образец ДНК, выделенной из абортивного материала при неразвивающейся беременности. ХА были обнаружены в 49,57% случаев, из них анеуплоидии, в том числе нескольких хромосом и мозаичные формы, составляют 79,65%, триплоидия - 10,72%, другие ХА, возможно имеющие клиническое значение, - 8,62%, тетраплоидия - 1,01%. Таким образом, хромосомный микроматричный анализ может быть рекомендован как рутинный метод для поиска несбалансированных ХА в абортивном материале при невынашивании беременности. Study objective is to assess the prevalence and pattern of chromosomal abnormalities (CAs) in products of conception (POC) for the period from 2015 to 2019. Materials and Methods: 2201 samples of POC were studied by the chromosomal microarray analysis. Study Results: CAs were detected in 49.57% of cases, of which aneuploidy, including several chromosomal and mosaic forms, were detected in 79.65%, triploidy - 10.72%, other CAs with possible clinical significance - 8.62%, tetraploidy - 1.01%. Conclusion: chromosomal microarray analysis can be recommended as a routine method for searching of unbalanced CAs in POC.

Chromosomal aberrations in women with primary and secondary amenorrhea: A cross-sectional study.

Among women of childbearing age, about 2-5% are affected by amenorrhea that is either primary or secondary. However, there are no data regarding the frequency and type of chromosomal abnormalities associated with amenorrhea in Saudi women. The present study aims to establish the frequency and pattern of chromosomal abnormalities in primary amenorrhea (PA) and secondary amenorrhea (SA) cases in a tertiary care center, Riyadh, Saudi Arabia. This cross-sectional study was conducted between 2013 and 2016 on women referred to the Reproductive Endocrine and Infertility Medicine Department at a tertiary care center in Riyadh. Women were divided into two groups: PA and SA. After the initial diagnosis of amenorrhea based on medical history, physical examination, hormonal profile and ultrasonography, chromosome karyotype analysis was conducted on metaphase preparations following routine cytogenetics culture and harvest methods. Chromosomal tests were performed for 53 patients (42 with PA and 11 with SA) out of 79 referred patients with amenorrhea. About 19% of the 42 patients with PA and 1 patient (9.1%) diagnosed as SA showed an abnormal karyotype. The most common abnormal karyotypes observed were 46, XY and 45, X. The present study indicates that the chromosomal analysis after the exclusion of nongenetic causes should be essentially considered for the precise diagnosis and the development of more successful management for females with amenorrhea. This study also revealed that the prevalence of chromosomal abnormalities in women with PA and SA is similar to that reported in the literature.

СHROMOSOMAL REARRANGEMENTS AND ATOPIC DERMATITIS

Objective. To determine the frequency and patterns of chromosomal abnormalities in patients with atopic dermatitis. Material and methods. 470 patients with torpid variant of atopic dermatitis were observed. The study included patients with established and recorded in the medical record diagnosis of atopic dermatitis, which has been confirmed in accordance with the diagnostic criteria of J. Hanifin and G. Rajka. Karyological study was performed to 47 patients with skin rash, interpreted as atopic dermatitis and various polysystemic lesions that could be associated with chromosomal aberrations. Results. According to results of karyotyping, 8 (17%) patients had a variety of deviations from the normal karyotype, which made 1.8%. In 3 cases the karyotype corresponding to syndrome Turner was detected. One patient had karyotype 46XY inv7 (gh ph). In 2 patients minor, differing in size inversion of chromosome 9 was detected. In 2 patients translocation forms of chromosomal rearrangements were identified. Conclusion. Given that the prevalence of chromosomal diseases in the population is 0.5%, the frequency of chromosomal rearrangements obtained in this study was 1.8%, significantly higher than general population figures. According to the results, we can recommend karyotyping for torpid form of atopic dermatitis particularly with concomitant pathology polysystemic or reproductive harm.

Updates on hypomelanosis of Ito

Hypomelanosis of Ito is a multisystem neurocutaneous syndrome.The pathogenesis hasn′t been clear and typical cutaneous lesions are associated with variable extracutaneous abnormalities involved the central nervous system and musculoskeletal system.Its clinical manifestations include abnormal skin biopsy and chromosomal patterns and brain iconography.The treatments have to be adapted to the individual and prognosis depends on the severity of clinical manifestations and complications. Key words: Hypomelanosis; Neurocutaneous syndrome

Frequency and pattern of cytogenetic alterations in primary amenorrhea cases of Kashmir, North India

BackgroundPrimary amenorrhea (PA) is proposed to have multiple etiological factors that include genetic factors, intrauterine malformations, endocrine dysfunction and environmental factors, as revealed by previous studies pertaining to amenorrhea. However, among the various proposed etiologies, genetic factors appear to be highly associated with PA as approximately 40% of PA cases have been found to have genetic causes. Aim of the studyThe present study was proposed to establish the frequency and pattern of chromosomal abnormalities in PA cases of Kashmir. Subjects and methodsA total of 108 females within the age group of 14–33years and having a history of amenorrhea were included in the study. Peripheral blood lymphocyte cultures were set for each subject according to standard protocol and chromosomal analysis was carried out on well spread metaphases by the help of Cytovision software Version 3.9. ResultsThe results of the present study reveal that the incidence of chromosomal abnormalities in PA cases of this region is almost similar with those of many reports around the world. However, we report two unique chromosomal alterations viz., 46,XX, dup2q(13) and 46,XX, t(2,5)(p11.2;q34) that have not been found elsewhere in the literature. ConclusionThe results of the present study indicate that chromosomal analysis of females with PA, after the exclusion of non-genetic causes, should be essentially considered for the precise diagnosis and the development of more successful treatment. The study being the first of its kind in this part of the world forms the basis for further studies of the PA cases of this region. The precise molecular characterization of the unique breakpoint regions reported in our study can possibly help in the identification of new genes involved in primary amenorrhea.

Occurrence of Chromosomal Alterations in Recurrent Spontaneous Abortion Couples: A Case-Only Study from Kashmir, North India

The present study was proposed to unveil the incidence and pattern of chromosomal abnormalities in recurrent spontaneous abortion couples of Kashmir, North India. A total of 71 couples within the age group of 24 to 42 years and having history of two or more recurrent spontaneous abortions were included in the study. Peripheral blood lymphocyte cultures were set for each subject according to standard protocol and chromosomal analysis was carried out on well spread metaphases by the help of Cytovision software Version 3.9. The incidence of chromosomal abnormalities in spontaneous abortion couples of this region was found to be 7.75% that include numerical (1.40%) as well as structural (7.75%) chromosomal abnormalities. Both males (2.11%) and females (5.63%) possessed chromosomal aberrations that comprised balanced translocations (4.22%), duplications (0.70%), deletions (0.70%) and inversions (2.11%). Besides, We report three unique balanced translocations viz., t(1;3)(q24.3;p25)(1 case); t(6,16)(p11;q23)(1 case) and t(7;14)(p13;q12)(2 cases). that have not been found elsewhere in the literature. We conclude from the present study that chromosomal alterations do occur as an etiology in the RSA couples of Kashmir and their incidence is consistent with many reports around the world. The precise molecular characterization of the unique breakpoint regions reported in our study could help in identification of new genes involved in recurrent spontaneous abortions. The study being the first of its kind in this part of the world forms the basis for further studies of the couples of this region with recurrent spontaneous abortions.

ЧАСТОТА И СПЕКТР ХРОМОСОМНЫХ АБЕРРАЦИЙ У СОРТОВ И ФОРМ ЧАЯ ПРИ СПОНТАННОМ МУТАГЕНЕЗЕ

In natural environment, tea Camellia sinensis (L.) Kuntze plants show high adaptability, which allows selecting valuable forms for breeding. An increase of genetic variability can be induced by several environmental factors, i.e. incoming radiation, temperature shocks, pesticides, fertilizers and so on. To estimate the variability, we studied the chromosomal aberrations in Kolkhida variety (as a standard on the yield and quality parameters), in Kimyn variety (both are large-leaved Chinese sort), in so-called «local population» (a mix of Chinese, Indian and Japanese sorts), and in their mutant forms with varying phenotype (the plants with deviations in leaf size, shape, coloration, blistering, and those fully modified in appearance). Plants were grown on commercial plantations in Gudauta, Sukhumi and Ochamchir regions of Abkhazia. The seeds harvested in September and October were germinated in thermostatic conditions at 27-30 °С. To examine the patterns of chromosomal abnormalities, only the seeds reproduced in Sukhumi region were used as here was the highest frequency of somatic changes (3.95±0.20 % comparing to the lowest rate of 2.00±0.03 % in Ochamchir region), and the frequency of fully modified plants in Sukhumi region has reached 0.1 %. In root meristem cells of Kimyn variety, the highest rate of chromosomal rearrangements (2.18±0.20 to 5.92±0.47 % depending on the location) was detected in mitotic anaphases I (2501 to 5580 revised). The significant differences were indicated in Kimyn variety (Р