chromosome pattern
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2021 ◽  
Vol 6 (2) ◽  
pp. 124
Author(s):  
Agus Pernando Simanjuntak ◽  
Diana Sofia Hanafiah ◽  
Luthfi Aziz Mahmud Siregar

To fulfill the demand of soybeans, the expansion of the planting area can be one of the choices through the conversion of marginal land by utilizing suboptimal land, such as saline soil. One of the plant breeding techniques to obtain tolerant plants to salinity is the use of chemical mutations, such as colchicine. The study aimed to reveal the effect of salinity on the characters of soybean plants (mutated with colchicine) and the effect of colchicine on the number of chromosomes and ploidy level. This study was conducted from January to March 2020 and carried out in the plastic house of Faculty of Agriculture, Universitas Sumatera Utara. The experiment was arranged in a Randomized Block Design with salinity levels (0 dS.m-1, 2 dS.m-1, 4 dS.m-1, 6 dS.m-1) as treatments and consisted of ten replications in each treatment. The result showed that the soybean plants were not successfully induced by colchicine at a concentration of 0.04 % with soaking duration of 10 hours, as indicated by the number of chromosomes and analysis of ploidy level. The soybeans that had been induced were planted in saline soil. There were significant effects observed on the productive branch, number of filled pods, and the weight of seeds per plant. Colchicine treatment did not successfully affect the number of chromosomes of soybeans but had an impact on the chromosome pattern. In addition, the salinity treatment of 4 dS.m-1 significantly affected the number of filled pods compared to the treatment of 6 dS.m-1.


2020 ◽  
Vol 22 (6) ◽  
Author(s):  
Pınar Kocaay

Introduction: 17 alpha-hydroxylase deficiency (17-OHD) is an infrequent autosomal recessive disorder in adrenal and gonadal steroidogenesis due to the CYP17A1 defect. Affected girls are characterized by delayed puberty, absence of secondary sex characteristics at puberty, and primary amenorrhea. Affected boys show female or ambiguous genitalia. Hormone imbalances result in varying degrees of hypertension and hypokalemia. The increase in corticosterone levels prevents the development of typical adrenal insufficiency symptoms. Glucocorticoid and sex steroid supplementation is the preferred treatment. Case Presentation: We reported two phenotypically female siblings, aged 14 and 25 years, with the 17-OHD from Ankara, the capital city of Turkey. The younger child had a 46,XX karyotype and the older had a 46,XY chromosome pattern. Another feature of the second patient (aged 25 years), was the presence of a large myelolipoma in her right adrenal gland. Conclusions: 17 alpha-hydroxylase patients are usually diagnosed late, and unlike patients with other forms of congenital adrenal hyperplasia, hypertension is the major finding, and 10% - 15% of patients have normal blood pressure at diagnosis. The delay in diagnosis causes hypertension and renovascular changes, psychological problems, osteoporosis, and irreversible damage to breast tissue.


2018 ◽  
Vol 18 (4) ◽  
pp. 385-389 ◽  
Author(s):  
Ali Zeyad ◽  
Bandar Al-Abdulkareem ◽  
Mohamad Eid Hammadeh

2018 ◽  
Vol 46 (10) ◽  
pp. 4323-4331 ◽  
Author(s):  
Yang Yu ◽  
Qi Xi ◽  
Jili Jing ◽  
Linlin Li ◽  
Hongguo Zhang ◽  
...  

Objective To report a case of abortion after intracytoplasmic sperm injection (ICSI) with ejaculated spermatozoa obtained from a man with mosaic Klinefelter’s syndrome. Methods Sperm nuclei from the patient were analyzed by fluorescence in situ hybridization, and the disomy frequencies for chromosome 18 and the sex chromosomes were determined. A literature review of the ICSI outcome of ejaculated sperm in patients with Klinefelter’s syndrome was also performed. Results A total of 108 spermatozoa nuclei were analyzed. Of these, 102 sperm cells were normal with an X18 (55.56%) or Y18 (38.89%) chromosome pattern. Three cells with XX18 (2.78%) and three cells with YY18 (2.78%) signals were detected. The fetus stopped developing in the eighth week. The karyotype determined by an analysis of the abortive tissue was 46, XY. The literature review identified a total of 12 patients who were analyzed in 11 reports. The fertilization rate was 80.9%, and the live birth rate per transfer was 71.4%. Conclusions ICSI with ejaculated spermatozoa from men with Klinefelter’s syndrome can lead to pregnancy, for which the risk of transmission of chromosomal aneuploidy is low.


2015 ◽  
Vol 45 (3) ◽  
pp. 271-283
Author(s):  
J. A. Tarkowska

The effect of oleander glycosides on dividing endosperm cells of <i>Haemanthus katherine</i> was investigated in vitro. The disturbances in the successive cell division phases were analysed in reference to cytokinesis. A strong tendency was noted to restitution nuclei formation in all phases of mitosis, and particularly in prophase. The observed chromosome pattern is the result of disturbances in prometaphase and anaphase chromosome movements owing to disturbances in the function of 'the 'mitotic spindle. It is probable that oleander glycosides inhibit formatiom of 'the microtubules of the mitotic spindle and disorganize the already formed spindle. They cause minor disturbances in cytokinesis, although frequently cell plates arise in quite unexpected places. The results of the present study are compared with those obtained in the case of root meristematic cells (Tarkowska, 1971a, b).


Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4606-4606
Author(s):  
Paolo Bernasconi ◽  
Irene Dambruoso ◽  
Marina Boni ◽  
Paola Maria Cavigliano ◽  
Ilaria Giardini ◽  
...  

Abstract We report two HSTCL patients who were studied with conventional cytogenetics (CC) and FISH on clinical diagnosis and during the follow-up to better understand the genetic events underlying this type of lymphoma. They were a 21-year old male and a 44-year old woman who came to our clinic for evaluation because of B-symptoms. On physical examination they presented massive splenomegaly and hepatomegaly. A peripheral blood count revealed anemia and thrombocytopenia in one patient and anemia in the other. They both presented high lactic dehydrogenase levels. A bone marrow biopsy demonstrated that a malignant T-cell population constituted 30% of all marrow cells in one patient and entirely substituted normal hemopoiesis in the other. This malignant T-cell population was CD2+,CD3+,CD7+,CD56+,CD4−,CD5−,CD8−. In addition, the T-cell clone, which showed a sinusal localization, was TCRα/β + in one case and TCRγ/δ + in the other. The two patients underwent splenectomy and it was shown that the red pulp had been completely infiltrated by a malignant cell population identical to that present in the marrow of the two patients. Therefore, a diagnosis of α/β + and γ/δ+ HSTCL in stage IVB was made and the patients started treatment. The male succeeded in entering a complete remission (CR) of only three month duration and after a bone marrow relapse was unable to achieve a second CR. The female did not respond to chemotherapy and died of disease related complications. CC and FISH studies were performed on bone marrow cells. CC discovered a normal chromosome pattern in the twenty metaphases obtained from the first patient, and an abnormal pattern in the eighteen mitotic cells obtained from the second whose karyotype was: 46,XX[7]/46,XX,i(7)(q10)[5]/47,XX,i(7)(q10),+i(7)(q10)[6]. FISH on mitotic and interphase cells was performed with the 7q31/CEP11 probe (Vysis) and the Bacterial Artificial Chromosome (BAC) probes RP11-79N1, RP11-299F5, RP11-1132K14, RP11-163M21 (kindly provided by the Wellcome Trust Sanger Institute, Cambridge UK and by the BACPAC Resources Children’s Hospital, Oakland, USA), which were localized on 7p15 and covered the HOXA cluster. The commercial probes were applied according to manufacturer’s guidelines. Hybridization procedures were carried out first with the BAC probes and subsequently with the commercial probes. On clinical diagnosis a significant cell population with the aberrant pattern (1×7p/2×7cen/3×7q) corresponding to i(7)(q10) was discovered in 25% of marrow cells from the first patient and in 90% marrow cells from the second. Interestingly, in the first patient the percentage of cells displaying this pattern equalled the percentage of cells infiltrating the marrow on morphologic examination. However, when this patient relapsed we did not succeed in identifying any cell carrying the 1×7p/2×7cen/3×7q pattern (cut-off fixed at 2%), even if the percentage of malignant T-cells infiltrating the marrow was higher than on diagnosis. In addition, CC revealed an absolutely normal chromosome pattern leading us to hypothesize that a cryptic genetic event might have occurred. In conclusion, our findings further underscore the association between i(7)(q10) and HSTCL, suggest that the number of i(7)(q10) present in the malignant cell might reduce response to treatment, lead us to hypothesize that patients who relapse might develop a second more subtle genetic lesion.


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