cytogenetic study
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2023 ◽  
Vol 83 ◽  
A. S. M. Abu Shnaf ◽  
M. S. Al-Khalifa

Abstract The karyotype and constitutive heterochromatin pattern of the white stork Ciconia ciconia samples obtained from Manzala lake, Dimiaat, Egypt was described. Somatic cells of Ciconia ciconia samples have diploid number 2n= 68 chromosomes. Out of 68 chromosomes, 11 pairs including sex chromosomes were macrochromosomes and the remaining pairs were microchromosomes. Of the 11 macrochromosome pairs, no.1, 2, 4 and 5 were submetacentric and pairs no. 6, 7 and 8 were described as metacentric. In addition, the autosome pair no.3 was subtelocentric, while autosome pair no.9 was acrocentric. Also, the sex chromosome Z represents the fourth one in size and it was classified as submetacentric while, W chromosome appeared as medium size and was acrocentric. Furthermore, C-banding pattern (constitutive heterochromatin) revealed variation in their sizes and occurrence between macrochromosomes. Pairs no. 7 and 8 of autosomes exhibited unusual distribution of heterochromatin, where they appeared as entirely heterochromatic. This may be related to the origin of sex chromosomes Z and W. However, there is no sufficient evidence illustrate the appearance of entirely heterochromatic autosomes. Therefore, there is no available cytogenetic literature that describes the C-banding and karyotype of Ciconia Ciconia, so the results herein are important and may assist in cytogenetic study and evolutionary pattern of Ciconiiformes.

2023 ◽  
Vol 83 ◽  
U. A. Awan ◽  
N. Farooq ◽  
A. Sarwar ◽  
H. M. S. Jehangir ◽  
M. S. Hashmi ◽  

Abstract Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross-sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years ± 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.

Olha Vygovska ◽  
Nataliia Knysh ◽  
Maryana Simonova ◽  
Tetiana Horodyska ◽  

Background: Immune cytopenia (IC) is one of the major complications in chronic lymphocytic leukemia (CLL). The paper describes the peculiarities of different immune cytopenia in CLL patients and the importance of individual prognostic markers in the course of the disease. Methods: We observed 62 patients with CLL complicated by immune cytopenia. Among these patients 30 had autoimmune hemolytic anemia (AIHA), 18 experienced immune thrombocytopenia (ITP), 10 had Fisher-Evans syndrome (FES), 3 were diagnosed with partial red cell aplasia (PRCA), and immune neutropenia (IN) was revealed in 1 patient. In addition to general examination and laboratory studies, the following examinations were performed: immunophenotyping of peripheral blood lymphocytes, flow cytometry (CD5; CD19; CD20; CD23; CD38; ZAP70), Coombs test, a molecular cytogenetic study of peripheral blood lymphocytes using the FISH method with TP53 and ATM probes, the level of ß2-microglobulin. Results: It was established that the overall survival of CLL patients with IC depends on the form of the latter. The median overall survival in patients with Fisher-Evans syndrome was the shortest (75 months), slightly better survival was observed in patients with AIHA (median 80 months), the best survival was found in patients with ITP (median not reached). Among unfavorable markers of CLL with IC, there is the presence of del 11q22.3. Unfavorable prognostic markers were also the following: a positive Coombs test, high levels of ZAP 70 expression, and high levels of ß2-microglobulin

2021 ◽  
Vol 66 (6) ◽  
pp. 45-49
Nelya Metlyaeva ◽  
A. Bushmanov ◽  
I. Galstyan ◽  
A. Davtyan ◽  
M. Sukhova ◽  

Purpose: Clinical and psychophysiological assessment of the adaptation of a patient who suffered from acute radiation sickness of moderate severity after the Chernobyl accident and acute leukemia, which began 30 years after the transferred ARS. Material and methods: A clinical and psychophysiological examination of a patient who suffered from acute radiation sickness of moderate severity after the Chernobyl accident and acute leukemia that occurred 30 years after the Chernobyl accident was carried out. The object of the study was the patient D.R.I., born in 1950, deputy. Head of the Chernobyl NPP workshop, participant in the liquidation of the consequences of the 1986 Chernobyl accident. On April 26, 1986, during an emergency, he underwent relatively uniform beta-gamma radiation with the development of ARS II (moderate) severity. Within 3.5 hours after the accident was in the premises of the Chernobyl nuclear power plant. In the structure of ARS, bone marrow syndrome of the second degree and oropharyngeal syndrome of the first degree of severity were observed. The radiation dose, according to a cytogenetic study, was 3.4 Gy. A psychophysiological study was carried out using the MMPI methodology, the Cattell’s 16 Personality Factors Test, the Expert automated software and methodological complex, designed to study the personality characteristics of a person, the cognitive and intellectual characteristics of a person, the Raven’s Progressive Matrices, simple and complex sensorimotor reactions and reactions to a moving object, 15 (2001) and 30 years (2016) after the Chernobyl radiation accident. Results: The clinical and psychophysiological assessment of the personality and the actual mental state made it possible to determine the demonstrative-hypochondriacal type of disturbance in the psychophysiological adaptation with the tendency for the anxiety-depressive behavior of the patient to progress to a state of increasing depression, more pronounced in dynamics. Conclusion: The psychophysiological assessment of the personality and current mental state of the patient who had ARS, moderate and, 30 years after the Chernobyl accident, acute leukemia showed a demonstrative-hypochondria type of adaptation disorder, as a variant of a disharmonious combination of hypochondria, anxiety-depressive and demonstrative tendencies with a predominance of demonstrativeness (the first, second and third scale of the MMPI methodology) with a significant decrease on the ninth scale in the form of an increase in depression in dynamics. The prevalence of demonstrativeness over growing depression in a person with high intellect, good figurative and logical thinking, and a lack of sensorimotor inhibition is a manifestation of optimism and resistance to a serious illness.

2021 ◽  
pp. 35-40
D.V. Romanov ◽  
S.Y. Shirnin ◽  
G.I. Karlov ◽  
M.G. Divashuk

М.Е. Миньженкова ◽  
Ж.Г. Маркова ◽  
А.Ф. Муртазина ◽  
Н.В. Шилова

Представлены клинические и молекулярно-генетические результаты обследования пациента с задержкой психомоторного развития, аномалиями фенотипа и множественными врожденными пороками систем и органов. При стандартном цитогенетическом исследовании определены две реципрокные транслокации между хромосомами 2 и 6 и хромосомами 7 и 11, подтвержденные FISH-методом. Хромосомный микроматричный анализ позволил выявить делецию 6q14.1 в точке разрыва на длинном плече хромосомы 6. Делеция включает несколько десятков генов, в том числе гены PHIP, FILIP1, MYO6, HTR1B, IMPG1, EVOLV4, TENT5A, которые вероятнее всего ассоциированы с клиническими проявлениями у пациента. The results of clinical and molecular genetic study of the patient with psychomotor delay, phenotype abnormalities and multiple congenital malformations of systems and organs are presented. A standard cytogenetic study determined a double translocation between chromosomes 2 and 6 and chromosomes 7 and 11, confirmed by the FISH method. Chromosomal microarray analysis revealed a deletion of 6q14.1 region at the break point on the long arm of chromosome 6. The deletion involves several dozen genes, including PHIP, FILIP1, MYO6, HTR1B, IMPG1, EVOLV4, TENT5A genes, which are most likely associated with clinical symptoms in the patient.

2021 ◽  
Vol 15 (1) ◽  
A. Berhili ◽  
M. Bensalah ◽  
J. ElMalki ◽  
A. Elyagoubi ◽  
R. Seddik

Abstract Background Being expressed in all stages of B-cell development and having a significant value on the European Group for the Immunological Characterization of Acute Leukemias scoring system, CD79a is considered as an excellent pan-marker for lineage assignment of B cells by flow cytometry. Therefore, any lack or decrease in CD79a expression makes the diagnosis of B acute lymphoblastic leukemia cases very challenging, especially in developing country laboratories where flow cytometry analyses are not always available and, when they are, they are limited in the number of markers used for lineage assignment. Since this case is potentially interesting, we report a B acute lymphoblastic leukemia case with a lack of expression CD79a associated with intrachromosomal amplification of chromosome 21 genetic abnormality. We further discuss the practical challenges in the diagnosis of this case. Case presentation We present the case of an 8-year-old Caucasian boy from eastern Morocco who was initially hospitalized for a hemorrhagic syndrome. Peripheral blood smear examination showed a significant number of blasts suggesting acute leukemia. Bone marrow was studied for morphology, cytochemistry, immunophenotyping, and cytogenetics. Flow cytometry analyses showed expression of CD19, CD22, CD10, CD34, and HLA-DR markers by leukemic blasts. The expression of CD79a, which was checked with two different monoclonal antibodies, confirms that this marker was severely decreased in this case. Cytogenetic study performed by fluorescence in situ hybridization revealed the presence of intrachromosomal amplification of chromosome 21, a cytogenetic abnormality that is specific for B acute lymphoblastic leukemia. Conclusion CD79a is one of the critical markers in the assignment of B acute lymphoblastic leukemia. In our case, we were lucky enough to be assisted by a few other markers of the B lineage that were positive in this case. Also, we mention the importance of proceeding to cytogenetic study, which in our case helped us to confirm the diagnosis made by flow cytometry by highlighting a cytogenetic abnormality that is specific to B acute lymphoblastic leukemia.

E. Yu. Mitrenina ◽  
A. S. Erst ◽  
E. D. Badaeva ◽  
S. S. Alekseeva ◽  
G. N. Artemov

45S and 5S ribosomal DNA were originally localized on chromosomes of five species of winter aconits,namely, Eranthis cilicica, E. hyemalis (section Eranthis), E. pinnatifida, E. stellata и E. tanhoensis (section Shibateranthis).Fluorescence in situ hybridization was performed with oligonucleotide DNA probes Oligo-pTa71-2 and Oligo-5S rDNAof wheat that are complementary to 45S and 5S ribosomal DNA. In addition, oligonucleotide DNA probe (Oligo-5.8SrDNA-Ran, 50 b) for localization of 45S rDNA was designed and tested. This probe is based on the 5.8S rDNA sequencesof some species of fam. Ranunculaceae taken from GenBank. A specific hybridization of the Oligo-5S rDNA and Oligo5.8S rDNA-Ran probes with the chromosomes of Eranthis was shown. The use of the Oligo-pTa71-2 probe did not localizeclusters of 45S rDNA on chromosomes of studied species.

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