scholarly journals Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis

2004 ◽  
Vol 12 (7) ◽  
pp. 513-520 ◽  
Author(s):  
Igor N Lebedev ◽  
Nadezhda V Ostroverkhova ◽  
Tatyana V Nikitina ◽  
Natalia N Sukhanova ◽  
Sergey A Nazarenko
Keyword(s):  
Cell Culture ◽  
Spontaneous Abortion ◽  
Chromosomal Abnormalities ◽  
Fish Analysis ◽  
Interphase Fish

Does supplemental interphase FISH analysis to standard chromosom analysis improve the detection of myelodysplastic syndrome?

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 7060-7060 ◽  
Author(s):  
Benjamin Joseph Lang ◽  
Carol Minyon ◽  
Neelam Dhiman ◽  
Saurabh Gupta ◽  
Stella Wenceslao ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Statistical Significance ◽  
Chromosome Analysis ◽  
Diagnostic Value ◽  
Fish Analysis ◽  
Retrospective Data ◽  
Trisomy 8 ◽  
Prognostic Information ◽  
Monosomy 7 ◽  
Interphase Fish

7060 Background: Our objective was to evaluate whether the addition of interphase FISH analysis to standard chromosome analysis (CA) improves the detection of chromosomal abnormalities in patients with work up for myelodysplastic syndromes (MDS), acute myeloid leukemia, and myelodysplastic/myeloproliferative disorders and thereby increases diagnostic and prognostic information. We performed a retrospective data review of all MDS orders between January and September 2015 at our institution and evaluated concurrent tests for discrepancies between CA and FISH results. Our aim was to evaluate best practices with regard to diagnostic test utilization, specifically to assess the diagnostic and prognostic value of FISH in addition to CA for patients with potential and known MDS. Methods: Retrospective data review of concurrent test orders of CA and myelodysplastic FISH panel were reviewed. The myelodysplastic FISH panel consists of screening for monosomy 5/deletion 5q, monosomy 7/deletion 7q, CEP7, trisomy 8, and D20S108 (20q12). The results of CA and FISH results were analyzed using a chi-square test to evaluate statistical significance. Results: A total of 1121 samples were queried, of which 55 were excluded due to inability to perform CA and limited diagnostic value of accompanying standalone FISH data on the 4 markers tested in this study. Analysis of the eligible 1066 samples showed that the standalone CA had significantly higher sensitivity (p < 0.0001) in detecting abnormal cases (N = 247, 23.17%) as compared to standalone FISH analysis (N = 180, 16.89%). Overall, 173 (16.23%) cases were determined to be abnormal by both methods. CA correctly interpreted 1059 of 1066 cases (99.34%).Only 7 samples were interpreted as normal by CA but were found to be abnormal by FISH. This results in overall 0.66% (2.76% of the abnormal cases) of abnormalities that would have been missed by CA only. Conclusions: These findings suggest that FISH studies with 4 markers used in this study provide limited additional utility in cases with a complete CA.

scholarly journals Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple

2017 ◽  
Vol 8 (1) ◽  
pp. 36-40
Keyword(s):  
Spontaneous Abortion ◽  
Robertsonian Translocation ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Genetic Evaluation ◽  
Fish Analysis ◽  
Translocation Carrier ◽  
Laboratory Manual ◽  
Reproductive Risk ◽  
Normal Offspring

ABSTRACT Purpose Spontaneous abortion has been reported in 15 to 20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation (RT) is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. Robertsonian translocation carriers, especially 21-14, are the most common balanced rearrangement among the carrier couples with a history of spontaneous abortion. Materials and methods Cytogenetic analysis was carried out based on phytohemagglutinin-stimulated peripheral blood lymphocyte cultures and without phytohemagglutinin-stimulated amniocyte culture. Lymphocyte and amniocyte culturing and GTG banding were performed following standard protocols as described by the Association of genetic technologists (AGT) Cytogenetics Laboratory Manual. Results Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down's syndrome and the mother was a carrier of balanced RT of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus was done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix found normal chromosomal constituent in the fetus. Conclusion The present study shows that genetic counseling, cytogenetic evaluation, prenatal diagnosis by amniocentesis, and FISH together help couples with nonhomologous RT and history with syndromic child and repeated abortions to get normal offspring. How to cite this article De P, Chakravarty S, Chakravarty A. Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple. Int J Infertil Fetal Med 2017;8(1):36-40.

scholarly journals Invasive Pre- and Postnatal Genetic Evaluation reduces the Reproductive Risk in the Era of Noninvasive or Minimally Invasive Prenatal Screening Method

2017 ◽  
Vol 1 (1) ◽  
pp. 35-39
Author(s):  
Amit Chakravarty ◽  
Puspal De ◽  
Sudipa Chakravarty
Keyword(s):  
Minimally Invasive ◽  
Spontaneous Abortion ◽  
Robertsonian Translocation ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Screening Method ◽  
Genetic Evaluation ◽  
Fish Analysis ◽  
Reproductive Risk

ABSTRACT Introduction Spontaneous abortion has been reported in 15 to 20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. Robertsonian translocation carriers especially 21,14 are the most common balanced rearrangements among the carrier couples with a history of spontaneous abortion. Materials and methods Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down’s syndrome and the mother was carrier of balanced Robertsonian translocation of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus were done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix. Conclusion The present case study shows that genetic counseling, cytogenetic evaluation, prenatal diagnosis by amniocentesis, and FISH together help couples with nonhomologous RT and history with syndromic child and repeated abortions to get normal offspring. How to cite this article De P, Chakravarty S, Chakravarty A. Invasive Pre- and Postnatal Genetic Evaluation reduces the Reproductive Risk in the Era of Noninvasive or Minimally Invasive Prenatal Screening Method. Int J Gynecol Endsc 2017;1(1):35-39.

scholarly journals Risk of Chromosomal Abnormalities in Early Spontaneous Abortion after Assisted Reproductive Technology: A Meta-Analysis

PLoS ONE ◽  
2013 ◽  
Vol 8 (10) ◽  
pp. e75953 ◽  
Author(s):  
Jun-Zhen Qin ◽  
Li-Hong Pang ◽  
Min-Qing Li ◽  
Jing Xu ◽  
Xing Zhou
Keyword(s):  
Assisted Reproductive Technology ◽  
Spontaneous Abortion ◽  
Chromosomal Abnormalities ◽  
Meta Analysis ◽  
Reproductive Technology

scholarly journals Tribological, biocompatibility, and antibiofilm properties of tungsten–germanium coating using magnetron sputtering

2021 ◽  
Vol 32 (1) ◽  
Author(s):  
Mustafa Şükrü Kurt ◽  
Mehmet Enes Arslan ◽  
Ayşenur Yazici ◽  
İlkan Mudu ◽  
Elif Arslan
Keyword(s):  
Cell Culture ◽  
Magnetron Sputtering ◽  
Cell Line ◽  
Borosilicate Glass ◽  
Chromosomal Abnormalities ◽  
Dermal Fibroblast ◽  
Fibroblast Cell ◽  
Antibiofilm Activity ◽  
Borosilicate Glasses

AbstractIn this study, borosilicate glass and 316 L stainless steel were coated with germanium (Ge) and tungsten (W) metals using the Magnetron Sputtering System. Surface structural, mechanical, and tribological properties of uncoated and coated samples were examined using SEM, X-ray diffraction (XRD), energy-dispersive spectroscopy, and tribometer. The XRD results showed that WGe2 chemical compound observed in (110) crystalline phase and exhibited a dense structure. According to the tribological analyses, the adhesion strength of the coated deposition on 316 L was obtained 32.8 N, and the mean coefficient of friction was around 0.3. Biocompatibility studies of coated metallic biomaterials were analyzed on fibroblast cell culture (Primary Dermal Fibroblast; Normal, Human, Adult (HDFa)) in vitro. Hoescht 33258 fluorescent staining was performed to investigate the cellular density and chromosomal abnormalities of the HDFa cell line on the borosilicate glasses coated with germanium–tungsten (W–Ge). Cell viabilities of HDFa cell line on each surface (W–Ge coated borosilicate glass, uncoated borosilicate glass, and cell culture plate surface) were analyzed by using (3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide) cytotoxicity assay. The antibiofilm activity of W–Ge coated borosilicate glass showed a significant reduction effect on Staphylococcus aureus (ATCC 25923) and Pseudomonas aeruginosa (ATCC 27853) adherence compared to control groups. In the light of findings, tungsten and germanium, which are some of the most common industrial materials, were investigated as biocompatible and antimicrobial surface coatings and recommended as bio-implant materials for the first time.

Sequential Interphase FISH Analysis of m-BCR/ABL Chimeric Gene-Positive Cells in Ph-Positive Acute Myeloid Leukemia

1997 ◽  
Vol 26 (1-2) ◽  
pp. 185-191 ◽  
Author(s):  
Rie Onishp ◽  
Kimio Tanaka ◽  
Chihiro Shimazaki ◽  
Noboru Yamagata ◽  
Yoshiteru Konaka ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Chimeric Gene ◽  
Fish Analysis ◽  
Interphase Fish ◽  
Acute Myeloid

scholarly journals Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities

2015 ◽  
Vol 145 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Devin M. Cox ◽  
Merlin G. Butler
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Abnormalities ◽  
Receptor Gene ◽  
Partial Trisomy ◽  
Chromosome Translocation ◽  
Fish Analysis ◽  
Partial Monosomy ◽  
Chronic Anemia ◽  
Dysmorphic Features ◽  
History Of

We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender stature, thoracic scoliosis and lumbar lordosis, and dysmorphic features. The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly. The chromosome derivative found in our patient contains genes known to play a role in his phenotype.

High Anti-Müllerian Hormone Level is Associated with A Lower Chromosomal Aberration Rate in Miscarried Conceptus From Women with Early Spontaneous Abortion

2020 ◽  
Author(s):  
Mingkun Mu ◽  
Simin Sun ◽  
Wei Zheng ◽  
Chen Yang ◽  
Shuheng Yang ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Chromosomal Aberration ◽  
Chromosomal Abnormalities ◽  
Clinical History ◽  
Advanced Age ◽  
Gene Testing ◽  
Significant Difference ◽  
Number Variation ◽  
Group 3 ◽  
Group 2

Abstract Background: Approximately 10-15% of clinically recognized pregnancies end in abortion. Most miscarriages occur as early spontaneous abortions. There are many factors leading to early spontaneous abortion, and 50–60% of such cases are associated with chromosomal abnormalities. The reason for this occurrence is not clear, but advanced age is a risk factor for chromosomal aberration in miscarried conceptus from women with early spontaneous abortion. As a marker of ovarian reserve, anti-Müllerian hormone (AMH) is negatively correlated with age. As women become older, AMH levels decrease. The objective of this study was to investigate whether different anti-Müllerian hormone (AMH) levels are associated with chromosomal aberration rate in miscarried conceptus from women who experience early spontaneous abortion.Methods: We collected the clinical history and miscarried conceptus of 434 women with early spontaneous abortion from January 2016 to June 2019. The women were divided into three groups according to AMH level (Group 1: low AMH <1.1 ng/ml [N =13], Group 2: normal AMH 1.1–4.5 ng/ml [N = 138], and Group 3: high AMH≥4.5 ng/ml [N =283]). Clinical history included age, anti-Müllerian hormone (AMH) level, number of previous abortions, estradiol (E2) level, luteinizing hormone (LH) level, follicle-stimulating hormone (FSH) level, infertile years, body mass index (BMI) and infertility factors. The miscarried conceptus was submitted for chromosomal copy number variation (CNV) analysis in the gene testing laboratory of the Third Affiliated Hospital of Zhengzhou University. Results: There were significant differences in age (39.5±4.3 vs. 33.0±5.3v s. 29.7±3.9, P＜0.001), E2 (187.9±513.4 vs. 92.9±160.6 vs. 66.5±139.3, P=0.019), LH (5.1±3.9 vs. 4.5±2.5 vs. 5.4±3.5, P=0.039), and FSH (10.7±5.6 vs. 7.3±2.6 vs. 6.4±2.1, P＜0.001) in different AMH groups. There were no significant differences in infertility years, BMI and infertility factors among the three groups.There was a significant difference in chromosomal aberration rate between different AMH groups (76.9% vs. 67.4% vs. 53.7%, Groups 2 vs. 3, respectively, P=0.008, OR 0.797, 95% CI 0.680-0.934). With the increase in AMH level, the chromosomal aberration rate in miscarried conceptus decreased gradually. After age stratification, the chromosomal aberration rate in miscarried conceptus was still significantly different among AMH groups, with a similar trend in women ≥35 years old (88.9% versus 76.0% versus 51.5%, P2 vs. 3 = 0.021, OR 0.678, 95% CI 0.470-0.977). There was the same trend in the younger group (＜35 years), but there was no significant difference (88.9% vs. 76.0% vs. 51.5).Conclusions: These findings indicate that high AMH level was associated with reduced risk of chromosomal aberration rate, especially in women of advanced age (≥35 years).

Cytogenetic abnormalities of cotton somaclones from callus cultures

Genome ◽  
1989 ◽  
Vol 32 (5) ◽  
pp. 762-770 ◽  
Author(s):  
David M. Stelly ◽  
D. W. Altman ◽  
R. J. Kohel ◽  
T. S. Rangan ◽  
E. Commiskey
Keyword(s):  
Cell Culture ◽  
Tissue Culture ◽  
Somaclonal Variation ◽  
High Frequency ◽  
Chromosomal Abnormalities ◽  
Callus Cultures ◽  
Meiotic Abnormalities ◽  
High Frequencies ◽  
Field Environment ◽  
Metaphase I

Somaclonal variation occurs among regenerants from tissue culture of many plant species. Our objective was to determine whether cytogenetic variation contributes to somaclonal variation in cotton (Gossyptum hirsutum L.,2n = 4x = 52). Of 117 somaclones of cotton regenerated from 18-month-old callus cultures of 'SJ-2' and 'SJ-5' cultivars, 35 were analyzed for meiotic abnormalities. The population of somaclones was extremely varied in phenotype, most plants being strikingly aberrant in phenotype. Fertility was generally poor: 84% failed to set bolls and only 5% set 10 or more bolls in a field environment. Only one of the somaclones (3%) formed 26 bivalents at metaphase I. Fourteen were nonsynaptic to partially synaptic at metaphase I. Synaptic abnormalities impaired fertility and precluded thorough metaphase analysis. Chromosome numbers obtained for 32 plants ranged from 49 to 53, and only 1 plant was hyperaneuploid. No plant was polyploid. Chromosomal abnormalities in plants with normal metaphase pairing included univalents, unequal bivalents, rod bivalents, trivalents, open quadrivalents, and centric fragments. Seventeen hypoaneuploid plants formed a V-shaped trivalent at metaphase I, constituting a high frequency of tertiary monosomy. The high frequencies of aneuploidy and tertiary monosomy indicate that cytogenetic anomalies are a major source of somaclonal variation in cotton. It is hypothesized that (i) primary cytogenetic events during cotton cell culture give rise to breakage – fusion – bridge (BFB) cycles, (ii) BFB cycles accrue during culture, (iii) BFB cycles cause loss of chromatin, and (iv) BFB cycles are resolved by the formation of stable tertiary chromosomes with mono-centric activity. The hypothesis accounts mechanistically for the coincidence of chromatin deficiencies and chromatin exchange involved implicitly in tertiary monosomy, as well as for the relatively high frequency of tertiary monosomy among somaclones.Key words: aneuploid, monosomic, synaptic, sterility, Gossypium.

Correlation between Immunoglobulin Gene Rearrangements and Chromosomal Abnormalities in Multiple Myeloma.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 4771-4771
Author(s):  
Giovanna Piras ◽  
Maria Monne ◽  
Antonella Uras ◽  
Laura Pilo ◽  
Luciana Arca ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Fish Analysis ◽  
Immunoglobulin Gene ◽  
Cytogenetic Aberrations ◽  
Oncogenic Pathways ◽  
Clonality Analysis ◽  
Conventional Cytogenetics ◽  
Clonogenic Cell

Abstract Background: Multiple Myeloma (MM) is characterized by frequent and complex genetic abnormalities that contribute to the pathogenesis and its prognostic eterogeneity. There is evidence for two oncogenic pathways in the early development of clonal plasma cell disorder: i) non-hyperdiploid carring translocation of the immunoglobulin heavy-chain locus and various oncogenes ii) hyperdiploid tumors with infrequent IgH translocation. The MM clonogenic cell is positively selected during the development and reaction of the germinal center. The immunoglobulin gene (IG) repertoire in MM follows a pattern similar to that of the normal repertoire. However, available data from analysis of IGH and IGK/L genes according to cytogenetic aberrations are limited. In the present study we investigated the frequency and characteristics of IGK and incomplete DJH as well as complete VDJH rearrangements in parallel with chromosomal abnormalities in a series of untreated MM patients. Materials and Methods. Bone marrow aspirates were collected from 53 MM patients with a mean age of 69.6 (range 48–84) between 2003–2007. The serum monoclonal component was IgG and IgA in the 77% and 22% patients respectively; 1 patient presented with IgD k MM. Cytogenetics and FISH analysis were performed simultaneously in 37 MM. In 18 (50.5%) samples kariotype analysis was successful. Interphase FISH analysis was perfomed using a set of probes specific for RB-1 (13q14), D13S319 (13q14.3), IgH (14q32), and p53 (17p13.1) loci, t(4;14), t(14;16), t(11;14) and a multicolor probe set for detection of aneuploidy (Vysis, Downers Grove, IL, USA). Genomic DNA was isolated for clonality analysis. IGHV-J, IGHD-J, IGKV-J, IGKV-KDE, IGKJ-C-INTRON-KDE rearrangements were amplified by PCR and analyzed following the BIOMED-2 protocol. Results: Conventional cytogenetics allowed to detect 16 patients with a normal kariotype, 1 hyperdiploid kariotype with monosomy 13, 1 hyperdiploid kariotype with 3q21 deletion. FISH panel analysis resulted in 4 patients with hyperdiploid kariotype and 7 with abnormalities for RB-1 and/or D13S319. IGH rearrangements were detected in 3 patients and the t (4;14) was found in 1 case. The p53 deletion, t(11;14) and t(14;16) were not detected. The overall detection rate of clonality by amplifying VDJH and DJH rearrangements using family-specific primers was 90%. We found a high frequency (71.7%) of DJH rearrangements with DH3 segment under represented (4%). The DH7 segment was rearranged in the 15% of MM. Incomplete DJH and complete VDJH rearrangements were present at frequencies of 20% and 29.5%, respectively. IGK locus rearrangements were detected in 38 out of 53 MM and the 60% presented the non-productive IGKV-KDE and IGKJ-C-INTRON-KDE rearrangements. Parallel analysis of clonality pattern and chromosomal abnormalities showed that complete VDJH rearrangements were present in all hyperdiploid MM and in a small proportion (4/16) of the MM with normal karyotype. Conclusions: Our results confirm previous estimations about IgH repertoire usage. Despite the small numbers, our findings indicate that complete Ig rearrangements might be correlated with hyperdiploid MM. Combining cytogenetics and IgH clonality studies might help to identify distinct subgroups of MM and provide a framework for dissection of disease prognosis and clinical management. Research funded by Regione Autonoma Sardegna.

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