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Results for “Cytogenetic Analysis”

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At least 19 recordsLinked to original sources
PubMed1979

[Cytogenetic analysis of lymphoid blood cells in bovine leucosis].

For the cytogenetic analysis lymphocytes of the peripheral blood were used that had been obtained from cows suffering from leucosis. The blood was taken from a diseased cow, from its 15 months old daughter suffering from leucosis, and from the healthy bull-father (NAT-47). The diagnosis of leucosis was determined by means of hematological examination. In the cow 139 metaphase plates were evaluated, in the daughter 118, and in the bull 132. On the one hand, normoploidy was determined and on the other hand, chromosome aberrations. In the cow 31.0 p. c. of chromosome aberrations were found, in the daughter 32.3 p. c., and in the bull 37.2 p. c. Breaks in X chromosomes were found in the cow (6.7 p. c.) and in the daughter (1.7 p. c.). Longitudinal diversion of arms in the centromere in X chromosomes in the vertical axis into two separate arms was found in the cow amounting to 6.5 p. c., in the daughter to 5.9 p. c., and in the bull to only 0.8 p. c.

Animals↗
PubMed1978

An improved technique of preparing bone-marrow specimens for cytogenetic analysis.

Sixty-six bone-marrow specimens, derived from patients with hematological and nonhematological disorders, were processed for cytogenetic analysis. Modifications of various parameters of the standard (direct) culture procedure were investigated and the quality of the preparations determined. As a result of these experiments, an improved culture technique was developed that yielded significantly better quality chromosome preparations. This method is based on a short incubation (25-min) of the bone-marrow specimen, immediately following aspiration, in a solution containing both hypotonic KCl and colcemid and completely omits the use of tissue culture medium.

Bone Marrow Cells↗
PubMed2024

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.

BACKGROUND: The literature contains exceedingly limited reports on chromosome 10p15.3 microdeletions. In the present study, two cases of fetuses with pure terminal 10p15.3 microdeletion syndrome in a Chinese population were examined, with the objective of enhancing understanding of the genotype-phenotype correlation associated with 10p15.3 microdeletions. METHODS: Two fetuses with chromosome 10p15.3 microdeletion were identified from a cohort of 5,258 cases undergoing amniocentesis. Karyotyping and chromosomal microarray analysis (CMA) was conducted to assess chromosomal abnormalities and detect copy number variations (CNVs) within the families, respectively. RESULTS: In Family 1, the fetus exhibited a 556.2-Kb deletion in the 10p15.3 region, encompassing OMIM genes such as DIP2C and ZMYND11, and presented with increased nuchal translucency on prenatal ultrasound examination. Parental CMA analysis revealed that the 10p15.3 microdeletion was inherited from the father, who displayed mild language impairment. In Family 2, a comparable 10p15.3 microdeletion was identified in a fetus presenting with asymmetric butterfly vertebrae at T10 and T12, along with mild scoliosis of the spine. Family 1 elected to terminate the pregnancy, while Family 2 chose to continue. At a follow-up conducted at one year and eight months, the child demonstrated delays in both speech and motor development. CONCLUSION: The present study is the first to report two cases of pure terminal chromosome 10p15.3 microdeletion syndrome in fetuses, offering valuable insights for the prenatal diagnosis of 10p15.3 microdeletion syndrome. Further, it is the first to describe mild clinical features, specifically limited to language impairment, in a patient with 10p15.3 microdeletion syndrome.

Female↗
PubMed1978

An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage.

Cytogenetic evaluation of couples with recurrent pregnancy wastage is frequently performed only after other possible etiologic factors have been excluded. Previous reports of studies using conventional and G-banding chromosome techniques in these couples have shown a higher frequency of translocations than that found in the general population. In the study reported here, both conventional and G-banded chromosome analyses were performed as a primary method of evaluation in 34 couples with recurrent fetal loss not ascertained by the birth of a child with a diagnosed chromosome disorder. Balanced translocations were found in 5 partners of the 34 couples studied. In only 2 of these cases was the translocation detected by conventional chromosome analysis. These results suggest that G-banded chromosome analysis should be a useful tool in the initial evaluation of couples with recurrent fetal wastage, rather than being recommended only after extensive investigation of other factors is unrewarding. The reproductive counseling of couples with a translocation detected on this basis is discussed.

Abortion, Habitual↗
PubMed1979

Cytogenetic analysis of human renal carcinoma cell lines of common origin (NC 65).

Cytogenetic analyses were performed on 3 clonal cell lines derived from a human renal cell carcinoma and its lymph node metastasis, two long-term tissue culture cell lines (NC 65-Sp and NC 65-R) and a serially transplantable tumor line growing on nude mice and brought into culture at the fifth animal passage (NC 65-V). Karyotype were established using banding techniques. Most of the marker chromosomes could be identified and were derived by deletion, inversion, translocation, or isochromosome formation of Chromosomes 1, 3, 4, 5, 8, 9, and 17. These markers were different from HeLa markers. NC 65-Sp had a near diploid chromosome number, NC 65-R a hypotetraploid number, and NC 65-V had a bimodal chromosome number, and NC 65-V had a bimodal chromosome number. Three chromosome markers were shared by the three cell lines; NC 65-R and NC 65-V shared an additional set of four markers. Markers specific to each line were also observed; they demonstrated the independent derivation of the lines and eliminated laboratory cross-contamination. Common markers between the lines confirmed their common tumoral origin.

Adenocarcinoma↗
PubMed1976

Clonal derivatives of a herpes type 2 transformed hamster cell line (333-8-9): cytogenetic analysis, tumorigenicity and virus sequence detection.

The characteristics of the Syrian hamster cell line (333-8-9), putatively transformed by herpes virus type 2 (HSV-2), strain 333, have been examined. The line has been cloned and the clones characterized cytogenetically and morphologically. The original line and the clones have been assayed for tumorigenicity and for the presence of herpes-virus-specific nucleic acid sequences using in situ hybridization with 125I HSV-2 DNA. The line 333-8-9 is hyperdiploid with a mode of 49 chromosomes and contains a spectrum of cytogenetic marker chromosomes present in varying frequencies. The clones demonstrate a segregation of these marker chromosomes and other abnormal chromosomes. Cloned lines have distinct stem-cell types with the characteristic abnormal chromosomes present in a high percentage of cells. Some of the marker chromosomes have been identified by Giemsa banding techniques. All the clones have distinctive, persistent in vitro morphologies, ranging from purely epithelial to purely fibroblastic. They differ from the line 333-8-9 and between themselves in tumorigenicity, varying from highly tumorigenic to entirely non-tumorigenic. Herpes virus 2 specific sequences have been detected in the original cell line and in all but two of the clones. There does not appear to be any obvious correlation between the three parameters of: (1) detection of HSV-2 information; (2) marker chromosome occurrence; and (3) tumorigenicity.

Animals↗
PubMed1979

Cytogenetic analysis of the sensitivity to anti-viral and anti-cell growth activities of human fibroblast interferon in aneuploid human tumor cell lines. Brief report.

The ability of human fibroblast interferon to suppress colony formation and papovavirus T-antigen expression in six human tumor cell lines did not appear to correlate with their content of chromosomes 16 and 21. Additional factors or chromosomes may be involved in the manifestation of interferon action in aneuploid cells.

Aneuploidy↗
PubMed1976

Cytogenetic analysis of human chromosomes and its value for the estimation of genetic risk.

A short review of present-day contradictory opinions on the usefulness of human chromosomal analysis in the system of chemical mutagen testing is illustrated by examples of the results achieved by both conventional and banding techniques. The results include exposures of human chromosomes to ECHH and TEPA in vitro, and to ECHH, vinyl chloride and Imuran in vivo. Exposures of human lymphocytes in vitro to the chemical to be tested for mutagenicity are recommended as one of the tests to be included in the system of mutagenicity testing, parallel with all other tests on mammalian and submammalian levels. The testing of human chromosomes of people exposed to chemicals in vivo is considered essential.

Chromosomes↗
PubMed1977

A cytogenetic analysis of cyclic nucleotide phosphodiesterase activities in Drosophila.

The genome of Drosophila melanogaster has been surveyed for chromosomal regions which exert a dosage effect on the activities of cAMP phosphodiesterase or cGMP phosphodiesterase. Two regions increase cAMP phosphodiesterase activity when present as duplications. A region of the X chromosome increases cAMP phosphodiesterase activity when duplicated and decreases that activity when deficient. This region has been delimited to chromomeres 3D3 and 3D4, with 3D4 being the most probable locus, and may contain a structural gene for cAMP phosphodiesterase. A region on the third chromosome, 90E-91B, increases cAMP phosphodiesterase activity when duplicated but has no effect on the activity when deficient. Two regions increase cGMP phosphodiesterase activity when present as duplications. A region of the X chromosome, 5D-9C, increases cGMP phosphodiesterase activity when duplicated, but smaller duplications covering this region fail to show such an increase, indicating that a single locus is not responsible for the increase observed for the larger duplication. A region of the third chromosome, 88C-91B, also increases cGMP phosphodiesterase activity when duplicated. Smaller duplications covering this region show smaller increases than that observed for the larger duplication, suggesting that at least three loci between 88C and 91B contribute to the observed increase by that region. Deficiencies covering region 88C-91B do not affect cGMP phosphodiesterase activity. No locus for a presumptive structural gene for cGMP phosphodiesterase has been found. Limitations of the use of segmental aneuploidy in locating structural genes for enzymes are discussed.

2',3'-Cyclic-Nucleotide Phosphodiesterases↗
PubMed1977

Genetic and cytogenetic analysis of the Adh region in Drosophila melanogaster.

Eighteen Adh-negative mutations were selected with 1-pentyn-3-ol after feeding of formaldehyde. Twelve of the 18 were shown by cytological and genetic analysis to be deletions. Cytological examination of the deletions allowed us to localize the Adh gene to a region including bands 35B3-5 on the left arm of chromosome 2. The deletions were also used to order known visible loci located near Adh.--The vital loci near Adh were also investigated. A total of 109 lethal mutations were generated with EMS and 33 of these, localized within a region defined by the overlap of two of the deletions, were found to belong to 13 complementation groups. If one includes three other loci known to belong there (el, Adh and Sco) a total of 16 complemetation groups have been identified in the region close to Adh.

Alcohol Oxidoreductases↗
PubMed1978

Cytogenetic analysis on children born of parents treated with immunosuppressive drugs.

Two women previously treated with cyclophosphamide had five pregnancies, resulting in seven normal offspring, including two sets of twins. All the babies had normal chromosome constitution and there was no significant chromosome damage. Apart from the twin pregnancies, which were induced, the pregnancies continued to full term and the birth weights were good. Men with renal transplants receiving azathioprine and prednisolone fathered 13 pregnancies, resulting in 11 offspring; one was a mongol; there were two spontaneous abortions, including a twin pregnancy. With the exception of the mongol, the babies had normal chromosome constitution and there was no significant chromosome damage. Two women with renal transplants receiving azathioprine and prednisolone have had four pregnancies, two ended in spontaneous abortion and two continue.

Azathioprine↗
PubMed1975

Cytogenetics analysis of meiotic chromosomes of irradiated mice and their progeny after treatment with streptomycin and dihydrodeoxystreptomycin.

The purpose of this investigation is to find out whether streptomycin and the related compound dihydrodeoxystreptomycin have any mutagenic effect and whether they both are capable of recovering X-ray induced chromosomal translocations in mouse spermatogonia of directly treated animals and their progeny of the first generation. The cytological findings show the absence of any mutagenic effect in animals nonirradiated and treated with streptomycin and dihydrodeoxystreptomycin. The frequency of chromosomal translocation after total irradiation was 9,07%; in animals treated with streptomycin following irradiation 5.13%, and in those irradiated and treated with dihyrodeoxystreptomycin, 3.70%. Male offsprings, originated from parents treated only with antibiotics show no chromosomal translocations. However, offsprings originated from irradiated and treated parents gave birth to the male offspring with chromosomal translocations.

Animals↗
PubMed2026

KIT and FLT3-ITD mutations do not predict outcomes in pediatric core-binding factor acute myeloid leukemia: findings from the C-HUANAN-AML-15 multicenter cohort study.

Although core-binding factor acute myeloid leukemia (CBF-AML) is generally considered a favorable-risk subtype in children, disease relapse remains a significant concern. The prognostic relevance of co-occurring mutations, particularly KIT and FLT3-ITD, remains debatable, and treatment intensity may modulate their impact. This multicenter analysis included 289 children (<&#x2009;14 years) with newly diagnosed CBF-AML enrolled in the C-HUANAN-AML-15 study (2015-2023). KIT and FLT3-ITD mutations were identified via cytogenetic analysis and targeted sequencing. Measurable residual disease (MRD) was evaluated by multiparameter flow cytometry (MFC) and quantitative polymerase chain reaction (PCR) following induction chemotherapy. Survival analyses were performed using Kaplan-Meier and Cox regression methods. This multicenter analysis included 289 children (<&#x2009;14 years) with newly diagnosed CBF-AML enrolled in the C-HUANAN-AML-15 study (2015-2023). KIT and FLT3-ITD mutations were identified via cytogenetic analysis and targeted sequencing. Measurable residual disease (MRD) was evaluated by multiparameter flow cytometry (MFC) and quantitative polymerase chain reaction (PCR) following induction chemotherapy. Survival analyses were performed using Kaplan-Meier and Cox regression methods. KIT mutations were detected in 103 patients (35.6%), predominantly involving exon 17 (69.9%), and were associated with extramedullary disease, sex chromosome loss, and trisomy 22. No significant differences in 5-year event-free survival (EFS), overall survival (OS), or cumulative incidence of relapse (CIR) were observed between patients with and without KIT mutations. FLT3-ITD mutations (5.5% of patients) did not adversely affect outcomes. Neither mutation independently predicted survival. MRD positivity (MFC-MRD&#x2009;&#x2265;&#x2009;0.1%) after the second induction cycle strongly predicted inferior EFS and OS and higher CIR, with corresponding results observed for molecular MRD and parallel findings for PCR-based MRD. In this large multicenter cohort, KIT and FLT3-ITD mutations did not adversely affect the prognosis of pediatric CBF-AML treated according to the C-HUANAN-AML-15 protocol. MRD after induction was the most powerful predictor of relapse and survival, underscoring its importance for risk stratification in future pediatric AML trials.

Humans↗