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1.
Braz. j. biol ; 83: e248814, 2023. tab, graf
Article in English | MEDLINE, LILACS, VETINDEX | ID: biblio-1339390

ABSTRACT

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.


Resumo O cariótipo e o padrão constitutivo de heterocromatina das amostras de cegonha-branca Ciconia ciconia obtidas no lago Manzala, Dimiaat, Egito, foram descritos. As células somáticas de amostras de Ciconia ciconia possuem número diploide 2n = 68 cromossomos. Dos 68 cromossomos, 11 pares incluindo cromossomos sexuais eram macrocromossomos e os pares restantes eram microcromossomos. Dos 11 pares de macrocromossomos, os nos 1, 2, 4 e 5 eram submetacêntricos, e os pares nos 6, 7 e 8 foram descritos como metacêntricos. Além disso, o par de autossomos no 3 era subtelocêntrico, enquanto o par de autossomos no 9 era acrocêntrico. Além disso, o cromossomo sexual Z representa o quarto em tamanho e foi classificado como submetacêntrico, enquanto o cromossomo W apareceu como de tamanho médio e acrocêntrico. Além disso, o padrão de bandamento C (heterocromatina constitutiva) revelou variação em seus tamanhos e ocorrência entre macrocromossomos. Pares nos 7 e 8 dos autossomos exibiram distribuição incomum de heterocromatina, onde apareceram como totalmente heterocromáticos. Isso pode estar relacionado à origem dos cromossomos sexuais Z e W. No entanto, não há evidências suficientes para ilustrar o aparecimento de autossomos totalmente heterocromáticos. Portanto, não há literatura citogenética disponível que descreva o bandamento C e o cariótipo de Ciconia ciconia, portanto os resultados aqui apresentados são importantes e podem auxiliar no estudo citogenético e no padrão evolutivo de Ciconiiformes.


Subject(s)
Animals , Sex Chromosomes/genetics , Heterochromatin/genetics , Birds , Karyotype , Karyotyping
2.
Braz. j. biol ; 83: e243514, 2023. tab, graf
Article in English | MEDLINE, LILACS, VETINDEX | ID: biblio-1278560

ABSTRACT

Abstract Allium sativum L. is an herb of the Alliaceae family with a specific taste and aroma and medicinal and nutraceutical properties that are widely marketed in several countries. Brazil is one of the largest importers of garlic in the world, despite of its production is restricted and limited to internal consumption. Thus, explore the genetic diversity of commercial garlic conserved at germplasm banks is essential to generate additional genetic information about its economically important crop. A suitable tool for this purpose is the cytogenetic characterisation of these accessions. This study aimed to characterise the cytogenetic diversity among seven accessions of garlic from a Germplasm Bank in Brazil. The karyotypes were obtained by conventional staining and with chromomycin A3 (CMA) and 4,6-diamidino-2-phenylindole (DAPI) fluorochromes. All accessions analysed showed chromosome number 2n = 16, karyotype formula 6M+2SM, symmetrical karyotypes, reticulate interphase nuclei, and chromosomes with uniform chromatin condensation from prophase to metaphase. The fluorochromes staining showed differences in the amount and distribution of heterochromatin along the chromosomes and between accessions studied. Based on the distribution pattern of these small polymorphisms, it was possible to separate the seven accessions into three groups. It was also possible to differentiate some of the accessions individually. One of the results obtained showed a heteromorphic distension of the nucleolar organiser region observed on the chromosome pairs 6 or 7 with peculiar characteristics. It was suggested for example, that the heteromorphic block of heterochromatin (CMA+++/DAPI-) on chromosome 6 of the "Branco Mineiro Piauí" accession can be used as a marker to identify this genotype or may be associated with some character of economic interest.


Resumo Allium sativum L. é uma erva da família Alliaceae com sabor e aroma específicos e propriedades medicinais e nutracêuticas amplamente comercializada em diversos países. O Brasil é um dos maiores importadores de alho do mundo, apesar da sua produção ser restrita e limitada ao consumo interno. Assim, explorar a diversidade genética do alho comercial conservado em bancos de germoplasma é essencial para fornecer informações genéticas adicionais acerca dessa cultura economicamente importante. Uma ferramenta adequada para esse fim é a caracterização citogenética desses acessos. Este estudo teve como objetivo caracterizar a diversidade citogenética entre sete acessos de alho de um Banco de Germoplasma no Brasil. Os cariótipos foram obtidos por coloração convencional e com os fluorocromos de cromomicina A3 (CMA) e 4,6-diamidino-2-fenilindol (DAPI). Todos os acessos analisados ​​apresentaram número cromossômico 2n = 16, fórmula cariotípica 6M + 2SM, cariótipos simétricos, núcleos reticulados em intérfase e cromossomos com condensação uniforme da cromatina da prófase para a metáfase. A coloração com fluorocromos mostrou diferenças na quantidade e distribuição de heterocromatina ao longo dos cromossomos e entre os acessos estudados. Com base no padrão de distribuição desses pequenos polimorfismos, foi possível separar os sete acessos em três grupos. Também foi possível diferenciar individualmente alguns dos acessos. Um dos resultados obtidos mostrou distensão heteromórfica da região organizadora nucleolar observada nos pares dos cromossomos 6 ou 7 com características peculiares. Foi sugerido, por exemplo, que o bloco heteromórfico de heterocromatina (CMA +++ / DAPI-) no cromossomo 6 do acesso "Branco Mineiro Piauí" pode ser usado como um marcador para identificar esse genótipo ou pode estar associado a algum caráter de interesse econômico.


Subject(s)
Garlic , Brazil , Heterochromatin/genetics , Chromosome Banding , Karyotype , Karyotyping
3.
Neotrop. ichthyol ; 20(1): e210162, 2022. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1365200

ABSTRACT

The ichthyofauna of the La Plata hydrographic basin is divided into Upper and Lower Paraná River systems due to the geographic isolation of the Sete Quedas waterfalls, currently flooded by the lake of the Itaipu dam. In Parodontidae, pairs of species, or groups of cryptic species were described between these systems. Although genetic isolation and speciation have already been proposed in other species in the group, Parodon nasus has been maintained as a valid species and distributed throughout the La Plata river basin. In this perspective, specimens of P. nasus from four different sampling sites in the Upper and Lower Paraná River systems were compared regarding the karyotypes, molecular analyzes of population biology and species delimitation to investigate their genetic and population isolation in the La Plata river basin. Despite a geographic barrier and the immense geographic distance separating the specimens sampled from the Lower Paraná River system compared to those from the Upper Paraná River, the data obtained showed P. nasus as a unique taxon. Thus, unlike other species of Parodontidae that showed diversification when comparing the groups residing in the Lower versus Upper Paraná River, P. nasus showed a population structure and a karyotypic homogeneity.(AU)


A ictiofauna do sistema hidrográfico La Plata é dividida em alto e baixo rio Paraná devido ao isolamento geográfico dos Saltos das Sete Quedas há 22 milhões de anos, atualmente inundado pelo lago da represa da Usina de Itaipu. Em Parodontidae, espécies pares ou grupos de espécies crípticas foram descritos entre esses sistemas. Contudo, embora o isolamento genético e especiação já tenham sido propostos em outras espécies do grupo, Parodon nasus tem sido mantido como espécie válida e distribuída em toda a bacia do rio La Plata. Nessa perspectiva, exemplares de P. nasus de quatro diferentes pontos de amostragem nos sistemas do alto e baixo rio Paraná foram comparados quanto ao arranjo dos cariótipos, análises moleculares de biologia populacional e delimitação de espécies, afim de investigar seu isolamento genético e populacional na bacia do rio La Plata. Apesar da barreira geográfica e imensa distância geográfica separando os exemplares amostrados no sistema baixo rio Paraná em comparação àqueles do alto rio Paraná, os dados obtidos demonstraram P. nasus como único táxon válido. Dessa forma, diferentemente de outras espécies de Parodontidae que demonstraram diversificação quando comparados grupos pares residentes no baixo e alto rio Paraná, P. nasus demonstrou estruturação populacional e homogeneidade cariotípica.(AU)


Subject(s)
Animals , Biology , DNA, Ribosomal , Characiformes/genetics , Molecular Sequence Annotation , Karyotype
4.
Rev. Bras. Saúde Mater. Infant. (Online) ; 21(4): 1129-1134, Oct.-Dec. 2021. tab, graf
Article in English | LILACS | ID: biblio-1360719

ABSTRACT

Abstract Objectives: to evaluate the bone mass in prepubertal patients with Turner Syndrome (TS) according to height age (HA) and verify the influence of karyotype and adiposity. Methods: retrospective and analytical study of prepubertal TS patients. The variables analyzed were: karyotype, age at bone densitometry (BD), height, body mass index (BMI) and BD result. The result of the BD was corrected using HA. BMI and BD were calculated on Z score for chronological age (CA) and for HA. Results: thirty-seven prepubertal patients were selected and after exclusion criteria, 13 cases between 10 and 13 years old were included in the study. The BD for HA was significantly higher than for CA (0.39 ± 1.18 x −1.62 ± 1.32), without karyotype (p=0.369) and BMI (p=0.697) influence. Conclusion: prepubertal TS patients present normal BD when corrected for HA, without influence of karyotype and BMI.


Resumo Objetivos: avaliar a massa óssea de pacientes pré-púberes com Síndrome de Turner (ST) de acordo com a idade estatura (IE) e verificar a influência do cariótipo e da adiposidade. Métodos: estudo retrospectivo e analítico de pacientes pré-púberes com ST. As variáveis analisadas foram: cariótipo, idade na realização da densitometria óssea (DO); estatura, índice de massa corporal (IMC) e resultado da DO. Realizou-se a correção do resultado da DO utilizando a IE. O IMC e a DO foram calculados em Z score para idade cronológica (IC) e para IE. Resultados: foram selecionadas 37 pacientes pré-púberes e após critério de exclusão foram incluídas no estudo 13 casos entre 10 e 13 anos de idade. A DO para IE foi significativamente maior que para IC (0,39 ± 1,18 × −1,62 ± 1,32), sem influência do cariótipo (p=0,369) e do IMC (p=0,697). Conclusão: pacientes pré-púberes com ST apresentam DO normal quando corrigida para IE, sem influência do cariótipo e do IMC.


Subject(s)
Humans , Child , Adolescent , Turner Syndrome/diagnosis , Bone Diseases, Metabolic/diagnosis , Body Mass Index , Stature by Age , Karyotype , Retrospective Studies , Densitometry/methods , Adiposity
5.
Biomédica (Bogotá) ; 41(2): 302-313, abr.-jun. 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1339269

ABSTRACT

Resumen | Introducción. La leucemia mieloide aguda es una neoplasia heterogénea caracterizada por la proliferación de células mieloides inmaduras. El análisis citogenético ha revelado la presencia de aberraciones cromosómicas de importancia en el pronóstico del paciente. Objetivo. Determinar los grupos de riesgo citogenético de pacientes pediátricos con leucemia mieloide aguda a partir de la supervivencia global. Materiales y métodos. Se hizo un estudio observacional de corte transversal. Se incluyeron los registros clínicos de los pacientes pediátricos con diagnóstico de leucemia mieloide aguda de novo admitidos en el Instituto Nacional de Enfermedades Neoplásicas entre el 2001 y el 2011 y sometidos a análisis citogenético de médula ósea. Los grupos de riesgo citogenético se establecieron según los criterios del Medical Research Council. Las curvas de supervivencia global se elaboraron con el método de Kaplan-Meier y se compararon mediante la prueba de Mantel-Cox y una regresión de Cox, utilizando el programa R, versión 3.3.2. Resultados. Se incluyeron 130 pacientes, 68 varones (52,3%) y 62 mujeres (47,7%), mayoritariamente del subtipo M2 (33%). La edad promedio fue de 7,7 (rango de 0 a 15 años). Se observaron aberraciones cromosómicas en el 60,8% y la más frecuente fue la traslocación t(8;21). Según el análisis de supervivencia global, se observaron dos grupos de riesgo citogenético: favorable y desfavorable. Conclusión. Se determinaron dos grupos de riesgo citogenético: alto (o desfavorable) y estándar (o favorable).


Abstract | Introduction: Acute myeloid leukemia is a heterogeneous disorder characterized by immature myeloid cell proliferation. Cytogenetic analysis has revealed the presence of chromosomal aberrations important to patient prognosis. Objective: To determine cytogenetic risk groups of pediatric patients with acute myeloid leukemia according to overall survival. Materials and methods: In this cross-sectional observational study, the clinical records of pediatric patients diagnosed with de novo acute myeloid leukemia admitted to the Instituto Nacional de Enfermedades Neoplásicas between 2001 and 2011 with cytogenetic analysis of bone marrow were included. Cytogenetic risk groups were established according to the criteria of the Medical Research Council. Overall survival curves were generated with the Kaplan-Meier method and compared using the Mantel-Cox test and Cox regression with the software R, version 3.3.2. Results: A total of 130 patients were included, 68 males (52.3%) and 62 females (47.7%), most of them with subtype M2 (33%). The average age was 7.7 years (range: 0-15 years). Chromosomal aberrations were observed in 60.8% of the patients, the most frequent of which was the translocation t(8;21). According to the overall survival analysis, two cytogenetic risk groups were established: favorable and unfavorable. Conclusion: Two groups of cytogenetic risk were determined: high (or unfavorable) and standard (favorable).


Subject(s)
Pediatrics , Leukemia, Myeloid, Acute , Survival , Chromosome Aberrations , Cytogenetic Analysis , Karyotype
6.
Acta amaz ; 51(2): 139-144, jun. 2021.
Article in English | LILACS | ID: biblio-1353416

ABSTRACT

O DNA barcoding propõe que um fragmento de DNA possa servir para identificar espécies. Em peixes, um fragmento do gene COI tem se mostrado eficaz em muitos estudos com focos diferentes. Nós usamos essa ferramenta molecular para fornecer novas informações sobre a diversidade críptica encontrada no complexo de espécies Hoplias malabaricus. Popularmente conhecida como traíra, H. malabaricus tem uma ampla distribuição na América do Sul. Esse clado mostra diversidade molecular e citogenética, e vários estudos dão suporte à ocorrência de um complexo de espécies. Realizamos análises molecular e cariotípica em indivíduos de H. malabaricus de oito localidades amazônicas, para acessar a diversidade no taxon nominal e elucidar as relações nesse grupo. Usamos 12 amostras em análises citogenéticas e encontramos dois cariomorfos: 2n = 40 (20m + 20sm) (cariomorfo C) e 2n = 42 (22m + 20sm) (cariomorfo A). Usamos 19 amostras em análise molecular, utilizando COI como marcador molecular, análises de máxima verossimilhança e o modelo evolutivo de Kimura-2-parâmetros com estimativa de bootstrap. Encontramos diferenciação relacionada aos cariomorfos com bootstrap de 100%. No entanto, encontramos alta diversidade molecular no cariomorfo C. O padrão observado nos permitiu inferir a presença de diversidade oculta, reforçando a existência de um complexo de espécies. (AU)


Subject(s)
Erythrinus , DNA Barcoding, Taxonomic , Karyotype
7.
Diagn. tratamento ; 26(1): 4-11, jan.-mar. 2021. quad, fig
Article in Portuguese | LILACS | ID: biblio-1247971

ABSTRACT

Os sinais clínicos da síndrome de Klinefelter foram observados pela primeira vez em 1942, mas sua etiologia só foi definida em 1959. Trata-se de uma condição genética na qual pelo menos um cromossomo X extra é adicionado ao cariótipo masculino normal (46,XY) e acomete cerca de 1 em cada 500 homens. É caracterizada por variabilidade fenotípica que leva a atraso ou ausência de diagnóstico, com uma estimativa de 50% a 75% de homens com Síndrome de Klinefelter nunca obterem o diagnóstico correto. Apesar de o cariótipo clássico (47,XXY) ser encontrado em 80%-90% dos pacientes e o mosaicismo (46,XY/47,XXY) nos 10% restantes, outros cariótipos podem ser encontrados menos frequentemente. Nesse sentido, este estudo tem por finalidade descrever os possíveis cariótipos identificados nos pacientes com Síndrome de Klinefelter. Os resultados mostram que a Síndrome de Klinefelter é usualmente diagnosticada na vida adulta e caracterizada por uma heterogeneidade citogenética quanto aos cariótipos possíveis apresentados pelos pacientes afetados. A condição foi diagnosticada precocemente quando associada à anomalia dos cromossomos autossomos, excesso de cromossomos X extra ou quando foi realizado diagnóstico pré-natal por idade materna avançada. É imprescindível que os profissionais de saúde, em especial os médicos, se familiarizem mais com essa condição, pois o diagnóstico correto e precoce permite a intervenção e tratamento adequados visando melhorar a qualidade de vida desses indivíduos.


Subject(s)
Trisomy , Cytogenetic Analysis , Karyotype , Infertility , Klinefelter Syndrome
8.
Article in Chinese | WPRIM | ID: wpr-922035

ABSTRACT

OBJECTIVE@#To carry out genetic analysis and parental tracing for a fetus with an inconclusive chromosomal karyotype.@*METHODS@#The fetus and its parents were subjected to combined chromosomal karyotyping, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) and multiplex PCR testing for Y chromosome microdeletions.@*RESULTS@#The fetus was found to have a karyotype of 45,X[18]/46,X,+mar[72]. CMA revealed that the fetus has carried a 2.6 Mb duplication at Yp11.32p11.31 and a 44.5 Mb deletion at Yq11.21q12. Interphase FISH of amniocytes confirmed the chromosomal mosaicism in the fetus, which has derived from Y chromosome. Multiplex PCR revealed deletion of AZFb and AZFc regions on the Y chromosome. No karyotypic abnormality was found with either parent at 400-band level.@*CONCLUSION@#Combined genetic analysis has delineated the aberrant karyotype in the fetus, which has facilitated prediction of its clinical phenotype and genetic counseling.


Subject(s)
Chromosomes, Human, Y/genetics , Female , Fetus , Humans , In Situ Hybridization, Fluorescence , Karyotype , Mosaicism , Pregnancy , Prenatal Diagnosis
9.
Article in English | WPRIM | ID: wpr-880662

ABSTRACT

Chronic myeloid leukemia with a significant increase of monocytes is rare and difficult to identify from chronic myelo-monocytic leukemia in clinic. A 31-year-old male patient with systemic pain was initially diagnosed as chronic myelo-monocytic leukemia, who was finally diagnosed as chronic myeloid leukemia by fusion gene and chromosome examination. In addition to the typical Ph chromosome, a rare chromosome translocation t(2; 7)(p13; p22) was observed. The detection of monocyte subsets by multi-parameter flow cytometry is a diagnostic marker to distinguish the above 2 diseases. The relationship between fusion genes and mononucleosis is not clear. Tyrosine kinase inhibitors or allogeneic hematopoietic stem cell transplantation can be used in the treatment for this disease.


Subject(s)
Adult , Humans , Karyotype , Karyotyping , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Male , Monocytes , Translocation, Genetic
10.
Article in Chinese | WPRIM | ID: wpr-880129

ABSTRACT

OBJECTIVE@#To investigate the expression of WTAP gene in acute myeloid leukemia (AML) and its clinical significance.@*METHODS@#74 acute myeloid leukemia patients with non-M3 type and 19 normal donors were selected, and real-time quantitative polymerase chain reaction was used to detect the mRNA expression level of WTAP gene in their bone marrow cells. The relationship between the mRNA expression level of WTAP gene and the clinical characteristics was analyzed.@*RESULTS@#The relative mRNA expression of WTAP gene in the non-M3 AML group was significantly higher than that in the healthy control group, and the difference showed statistically significant (P0.05) according to the classification of FAB. The mRNA expression level of WTAP gene in FLT3-ITD mutated AML patients was higher than that in FLT3-ITD unmutated group (P=0.016), and the mRNA expression level of WTAP gene in AML patients with CEBPα mutation was lower than that in CEBPα unmutated group (P=0.016). The expression level of WTAP mRNA was positively correlated with WT1 expression (r=0.6866, P0.05). The expression level of WTAP mRNA showed no obvious effect on the complete remission of patients after first treatment. The different expression level of WTAP gene at initial diagnosis showed also no effect on the overall survival time of patients.@*CONCLUSION@#The expression level of WTAP gene is increasing in new diagnosed non-M3 acute myeloid leukemia. There is a positive correlation between the expression level of WTAP gene and the expression level of WT1 fusion gene. WTAP mRNA always shows higher expression in patients with FLT3-ITD mutation than that in patients without FLT3-ITD mutation, and shows lower expression in patients with CEBPα mutation than that in unmutated group.


Subject(s)
Cell Cycle Proteins , Humans , Karyotype , Leukemia, Myeloid, Acute/genetics , Mutation , Prognosis , RNA Splicing Factors , Remission Induction , fms-Like Tyrosine Kinase 3/genetics
11.
Autops. Case Rep ; 11: e2021323, 2021. graf
Article in English | LILACS | ID: biblio-1339244

ABSTRACT

Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate with a normal female karyotype and chromosome microarray demonstrating findings consistent with FADS. We provide a detailed examination of the severe and complex central nervous system abnormalities, including marked pontocerebellar hypoplasia and cortical and cerebellar migration and gyration defects. This case represents a rare detailed examination of the central nervous system of a patient with FADS.


Subject(s)
Humans , Female , Infant, Newborn , Arthrogryposis/pathology , Phenotype , Autopsy , Central Nervous System/abnormalities , Corpus Callosum/pathology , Fetal Movement , Karyotype
12.
Article in Portuguese | LILACS | ID: biblio-1248354

ABSTRACT

Objetivos: Síndrome da deleção 6q é considerada uma anomalia cromossômica rara. Assim, nosso objetivo foi relatar um caso de um menino com essa síndrome, em Manaus/Amazonas. Descrição do caso: Menino com quatro anos de idade que apresenta atraso do crescimento e do desenvolvimento neuropsicomotor, dificuldades de ganho de peso e anormalidades na retina. A análise citogenética do paciente revelou cariótipo com 46, XY, del(6)(q25-qter). Conclusões: Este relato demonstrou a importância das análises citogenéticas para o diagnóstico preciso das anomalias congênitas, pois auxiliam no encaminhamento de tratamentos adequados aos pacientes e na ampliação de conhecimento científico relacionado a essa deleção.


Aims: Deletion 6q syndrome is considered a rare chromosomal anomaly. Thus, our objective was to report a rare case of a boy with 6q deletion syndrome. Case description: 4-year-old boy with delayed growth and neuropsychomotor development, weight gain difficulties and retinal abnormalities. Karyotypic analysis of the patient revealed karyotype 46, XY, del (6) (q25-qter). That is, a deletion in the long arm of one of the chromosome 6, specifically in the distal region of the long arm of the 6q25 band up to the 6qter band. Conclusions: This report demonstrates the importance of cytogenetic analyzes for the accurate diagnosis of congenital anomalies, as they assist in referring appropriate treatments to patients and in expanding scientific knowledge related to this deletion.


Subject(s)
Humans , Male , Child, Preschool , Chromosomes, Human, Pair 6 , Congenital Abnormalities , Chromosome Deletion , Karyotype
13.
Journal of Experimental Hematology ; (6): 1528-1532, 2021.
Article in Chinese | WPRIM | ID: wpr-922290

ABSTRACT

OBJECTIVE@#To investigate the clinical characteristics of myelodysplastic syndrome (MDS) patients with chromosome 21 karyotype abnormality.@*METHODS@#The clinical data of 155 patients with MDS were retrospectively analyzed, the clinical characteristics, survival and factors affecting prognosis of chromosome 21 karyotype abnormality patients were analyzed.@*RESULTS@#Among 155 MDS patients, 4 were 5q- syndrome, 41 were MDS-EB-I, 35 were MDS-EB-II, 27 were MDS-SLD, 46 were MDS-MLD, 1 was MDS-RS-SLD, and 1 was MDS-U. The median follow-up time was 11.0(0.1-120.9) months. Among 155 MDS patients, 13 (9.0%) showed chromosome 21 abnormalities. Among the 13 patients with chromosome 21 karyotype abnormalities, there were 5 cases with simple +21 karyotype, 1 case with del (21q12), 1 case with +8, +21, 1 case with i(21q), 1 case with 20q-, +21, and 4 cases with complex karyotype involving chromosome 21; including 2 cases of MDS-SLD, 4 cases of MDS-MLD, 5 cases of MDS-EB-I and 2 cases of MDS-EB-II. The median survival time of the patients was 3.1 (0.1-6.7) months.@*CONCLUSION@#Chromosome 21 karyotype abnormality is rare in MDS, and the prognosis is worse than the patients without chromosome 21 abnormalities.


Subject(s)
Chromosomes, Human, Pair 21 , Humans , Karyotype , Karyotyping , Myelodysplastic Syndromes/genetics , Retrospective Studies
14.
Journal of Experimental Hematology ; (6): 1411-1416, 2021.
Article in Chinese | WPRIM | ID: wpr-922273

ABSTRACT

OBJECTIVE@#To investigate the incidence of Runt-related transcription factor 1 (RUNX1) gene and its associated gene mutations in patients with acute myeloid leukemia (AML), and analyze its clinical characteristics and prognosis.@*METHODS@#The genomic DNA-PCR method was used to detect the exon of RUNX1 gene, and the gene mutations were analyzed by genetic sequencing. NPM1, DNMT3A, FLT3-ITD, IDH1/2, K/N-RAS, CEPBA, TET2, and WT1 co-mutations were also detected. Patients were followed up to determine efficacy and prognosis.@*RESULTS@#Among 171 patients, the RUNX1 gene mutation was detected in 17 cases, and the mutation rate was 9.9%. The type of RUNX1 gene mutation was 9 missense mutations, 4 frameshift mutations, and 4 nonsense mutations. The peripheral blood leukocyte count of the patients in mutation group was 3 (1-101) ×10@*CONCLUSION@#AML patients with RUNX1 gene mutation shows unique clinical and biological characteristics, RUNX1 mutation can be regarded as a molecular marker of poor prognosis in AML patients.


Subject(s)
Core Binding Factor Alpha 2 Subunit/genetics , Humans , Karyotype , Leukemia, Myeloid, Acute/genetics , Leukocytes, Mononuclear , Mutation
15.
Article in Chinese | WPRIM | ID: wpr-879539

ABSTRACT

OBJECTIVE@#To perform prenatal diagnosis for a woman carrying a balanced translocation.@*METHODS@#Clinical phenotype of the woman and her first child was analyzed. Peripheral blood sample of the woman and amniotic fluid sample from two subsequent pregnancies were subjected to chromosomal karyotyping and copy number variation analysis through next-generation sequencing (NGS).@*RESULTS@#The karyotypes of the woman and her first child were determined as 46,XX,t(5;6)(p15:p23) and 46,XX,?der(5),t(5;6)(p15.32;p22.3), respectively. The karyotype of the amniocyte from her second pregnancy was 46,XN,t(5;6)(p15:p23). No pathogenic copy number variation was detected. The karyotype of her third pregnancy was 46,XN,?der(5),t(5;6)(p15.32;p22. 3), in addition with a 6.04 Mb deletion at 5p15.33p15.32 (20 000 - 6 060 000) and a 18.50 Mb duplication at 6p25.3p22.3 (160 000 - 18 660 000).@*CONCLUSION@#Combined karyotyping analysis and NGS has enabled detection of fetal copy number variations for a woman carrying a balanced chromosomal translocation.


Subject(s)
Child , DNA Copy Number Variations , Female , Fetus , High-Throughput Nucleotide Sequencing , Humans , Karyotype , Karyotyping , Pregnancy , Prenatal Diagnosis
16.
J. pediatr. (Rio J.) ; 96(5): 607-613, Set.-Dec. 2020. tab
Article in English | ColecionaSUS, LILACS, ColecionaSUS, SES-SP | ID: biblio-1135058

ABSTRACT

Abstract Objective: To evaluate, in a sample of patients with disorders of sex development (DSD), data related to the age at referral and their correlation with the initial complaints, gender at referral, defined gender after diagnosis and etiological diagnosis. Methods: Retrospective review of the age at the first consultation and the reason for it, initial social gender and gender after the diagnosis, karyotype and etiological diagnosis of all cases treated at a DSD outpatient clinic between 1989 and 2016. Cases that did not involve DSD and DSD diagnoses that do not usually involve ambiguous genitalia, thus not requiring specialized monitoring, were excluded. Results: Of the 1793 treated cases, 1139 were diagnosed with some type of DSD. This study excluded 430 cases (272 with Turner's syndrome, 66 with Klinefelter syndrome, and 92 with pure gonadal dysgenesis), thus a total 709 individuals were included. Of these, 82.9% were referred due to ambiguous genitalia; only one-quarter were still in the first month of life, and 6.6% were referred due to pubertal delay, with most of them aged 10 years or older. Of these patients, 68.6% had a diagnosis of XY DSD, 22.4% of XX DSD, and 9% of sex chromosome abnormalities. Conclusions: This study presents the largest series in the literature of patients with DSD treated in a single center. The time of referral of the majority of patients with ambiguous genitalia fell short of the ideal, and milder cases of ambiguous genitalia and many with pubertal manifestations were referred even later. The results reinforce the importance of continuing education for professionals who will have the first contact with these patients, mainly pediatricians and neonatologists.


Resumo Objetivo: Avaliar em uma amostra de pacientes com distúrbios da diferenciação do sexo (DDS), dados relacionados à idade, ao encaminhamento e sua correlação com as queixas iniciais, ao sexo ao encaminhamento e ao sexo final e diagnóstico etiológico. Métodos: Revisão retrospectiva da idade por ocasião da primeira consulta e motivo dela, sexo social inicial e após definição do diagnóstico, cariótipo e diagnóstico etiológico de todos os casos atendidos em um ambulatório especializado em DDS entre 1989 e 2016. Foram excluídos casos que não compreendiam DDS e diagnósticos de DDS que não cursam comumente com ambiguidade genital, não necessitam de acompanhamento especializado. Resultados: Dos 1.793 casos atendidos, 1.139 foram diagnosticados com algum DDS. Excluíram-se 430 (272 síndrome de Turner, 66 síndrome de Klinefelter e 92 disgenesia gonadal pura), totalizando 709. Desses, 82,9% foram encaminhados por ambiguidade genital, somente um quarto ainda no primeiro mês de vida e 6,6% por atraso puberal, a maioria com 10 anos ou mais; 68,6% tiveram diagnóstico de DDS XY; 22,4% DDS XX e 9% de anomalias dos cromossomos sexuais. Conclusões: Este estudo apresenta a maior casuística na literatura de pacientes com DDS atendidos em um único serviço. O momento de encaminhamento da maioria dos pacientes com ambiguidade genital foi aquém do ideal e casos mais leves de ambiguidade e muitos com manifestações puberais foram encaminhados ainda mais tardiamente. Os resultados reforçam a importância do ensino continuado a profissionais que terão o primeiro contato com esses pacientes, principalmente pediatras e neonatologistas.


Subject(s)
Humans , Child , Disorders of Sex Development/diagnosis , Disorders of Sex Development/therapy , Retrospective Studies , Karyotype , Pediatricians
17.
Oncol. (Guayaquil) ; 30(2): 167-177, 31 de agosto del 2020.
Article in Spanish | LILACS | ID: biblio-1145253

ABSTRACT

Propósito de la revisión: el objetivo de la revisión es delinear la fisiopatología de los linfomas de estirpe B.Buscamos reportes endonde se incluyela descripción del origen de los Linfomas B para una mejor comprensión de esta patología, a la luz de los avances en las diferentes áreas. Recientes hallazgos: El Grupo Euroflow ha publicado una lista de paneles de Expresión de Antígenos de Superficie en Linfoma no Hodgkin, cuya lista se presenta en este artículo. Extracto: Las neoplasias hematológicas han tenido grandes avances en los últimos años en varios campos, evolucionando desde la identificación citológica, pasando por su caracterización inmunofenotípica por medio de la Citometría de Flujo e Inmunohistoquímica y llegando a la caracterización molecular, iniciando por Técnicas de Cariotipo Convencional, continuando por técnicas de Inmunohibridación in situ y actualmente con la identificación molecular por medio de la Secuenciación de Nueva Generación. Esta es la razón por la que los sistemas de estadificación han ido evolucionando también, siendo el que está al momento en vigencia el propuesto por la Organización Mundial de la Salud en el año 2016.Los linfomas constituyen un grupo heterogéneo de neoplasias hematológicas con un amplio espectro de presentación clínica, cuyo origen se encuentra en los precursores de linfoides y que afectan a los diversos órganos linfoides. De estos, los linfomas dela línea B son los más comunes, motivo de esta revisión


Purpose of the review: the objective of the review is to delineate the pathophysiology of B-line lymphomas. We are looking for reports that include a description of the origin of B-lymphomas for a better understanding of this pathology, in light of advances in the different areas. Recent Findings: The Euroflow Group has published a list of Surface Antigen Expression panels in Non-Hodgkin Lymphoma, the list of which is presented in this article. Extract: Hematological neoplasms have had great advances in recent years in several fields, evolving from cytological identification, passing through their immunophenotypic characterization through Flow Cytometry and Immunohistochemistry and reaching molecular characterization, starting with Conventional Karyotype Techniques , continuing with in situ Immunohybridization techniques and currently with molecular identification through New Generation Sequencing. This is the reason why staging systems have also evolved, the one currently in force being the one proposed by the World Health Organization in 2016. Lymphomas constitute a heterogeneous group of hematological neoplasms with a wide spectrum of clinical presentation, originating from lymphoid precursors and affecting the various lymphoid organs. Of these, line B lymphomas are the most common, which is the reason for this review


Subject(s)
Humans , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma , Antigens, CD20 , Flow Cytometry , Review , High-Throughput Nucleotide Sequencing , Karyotype
18.
Rev. chil. obstet. ginecol. (En línea) ; 85(4): 335-342, ago. 2020. tab
Article in Spanish | LILACS | ID: biblio-1138629

ABSTRACT

INTRODUCCIÓN: En Chile, la norma técnica de la Ley N° 21.030 de 2017 considera tres aneuploidías como letales; las trisomías 9, 13 y 18, cuyo diagnóstico se confirma con un cariograma. No existe a la fecha registro nacional de frecuencia prenatal de estas patologías. OBJETIVO: Determinar la frecuencia de trisomías 9, 13 y 18 en los estudios citogenéticos prenatales en muestras de células obtenidas con amniocentesis y cordocentesis, procesados en el Laboratorio de Citogenética del Hospital Clínico Universidad de Chile. MATERIALES Y MÉTODOS: Estudio descriptivo y retrospectivo de los resultados de cariograma de líquido amniótico (LA) y sangre fetal (SF), procesados desde enero de 2000 a diciembre de 2017. RESULTADOS: Se incluyeron 2.305 muestras (402 de SF y 1.903 de LA), de ellas 442 (19%) fueron trisomías letales (TL), dentro de ellas fueron TL libres 416 (95%), TL estructurales 15 (2,7%) y mosaicos 11 (2,3%). La trisomía 18 fue en ambos tipos de muestra la más frecuente (73,5%), seguida de trisomía 13 (24,2%) y trisomía 9 (2,3%). Se desglosan resultados conforme al tipo de TL, muestra, motivo de derivación, edad materna y edad gestacional. CONCLUSIONES: El cariograma confirma el diagnóstico de aneuploidías y aporta datos relevantes para el consejo genético. La cromosomopatía letal más frecuente fue la trisomía 18. Se observó que uno de cada cinco cariogramas referidos por anomalías congénitas y/o marcadores de aneuploidía revelaban una TL.


INTRODUCTION: In Chile, the technical standard of Law No. 21,030 of 2017 considers three aneuploidies as lethal; trisomies 9, 13 and 18, whose diagnosis is confirmed with a Karyotype. To date there is not a national registry of prenatal frequency of these pathologies. OBJECTIVE: To determine the frequency of trisomies 9, 13 and 18 in prenatal cytogenetic studies in samples of cells obtained with amniocentesis and cordocentesis, processed in the Cytogenetics Laboratory of the Universidad de Chile Clinical Hospital. MATERIALS AND METHODS: Descriptive and retrospective study of the results of karyotypes of amniotic fluid (LA) and fetal blood (SF) processed from January 2000 to December 2017. Results: 2,305 samples (402 of SF and 1,903 of LA) were included, of which 438 (19%) were lethal trisomies (TL), corresponding to free TL 416 (95%), structural TL 12 (2,7%) and mosaics 10 (2.3%). Trisomy 18 was the most frequent in both types of sample (73,5 %), followed by trisomy 13 (24,2%) and trisomy 9 (2.3%). RESULTS are shown according to the type of TL, sample, reason for referral, maternal age and gestational age. CONCLUSIONS: The karyotype confirms the diagnosis of aneuploidies and provides relevant data for genetic counseling. The most frequent lethal chromosomopathy was trisomy 18. It was observed that one in five karyotypes referred for congenital anomalies and / or aneuploidy markers revealed a TL.


Subject(s)
Humans , Female , Pregnancy , Adolescent , Adult , Middle Aged , Young Adult , Prenatal Diagnosis/methods , Cytogenetic Analysis , Trisomy 13 Syndrome/diagnosis , Trisomy 18 Syndrome/diagnosis , Prenatal Diagnosis/statistics & numerical data , Trisomy , Epidemiology, Descriptive , Retrospective Studies , Fetal Blood , Karyotype , Trisomy 13 Syndrome/genetics , Trisomy 13 Syndrome/epidemiology , Trisomy 18 Syndrome/genetics , Trisomy 18 Syndrome/epidemiology , Amniocentesis , Amniotic Fluid , Aneuploidy
19.
Rev. chil. obstet. ginecol. (En línea) ; 85(3): 255-262, jun. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1126160

ABSTRACT

INTRODUCCIÓN: El Síndrome de Down (SD) es una de las aneuploidías más frecuentes. En Chile, la incidencia es de 2.2 por 1000 nv. La esclerosis tuberosa (ET) es una enfermedad genética autosómica dominante con una prevalencia de 1:600 a 1:10.000 nacidos vivos (nv) que se sospecha prenatalmente por la presencia de rabdomiomas cardiacos. Los tumores cardiacos fetales tienen una prevalencia de 1:10000 nv, los más prevalentes son los Rabdomiomas. El hallazgo de tumores intracraneanos son infrecuentes, dentro del diagnóstico diferencial es necesario descartar la Hemorragia Intraventricular (HIV). CASO CLÍNICO: Paciente de 29 años, M2, Derivada a nuestro centro a las 27+4 semanas para evaluación ecográfica. Entre los hallazgos se encuentran tumores intracardiacos en ventrículo derecho y marcadores blandos para alto riesgo de aneuploidía, por lo que se realiza cariotipo (amniocentesis genética: 47, XX+21). A las 32+0 semanas en una nueva evaluación presenta imagen hiperecogénica sugerente de tumor intracerebral. Se solicita resonancia magnética fetal que informa hemorragia intraventricular (HIV). El parto ocurre con un recién nacido de término, fenotipo concordante con Trisomía 21, ecocardiograma confirma dos tumores intracardiacos (Rabdomiomas) y ecografía cerebral confirma el diagnóstico de HIV Grado III derecho. Ante el diagnóstico diferencial de ET, se realiza ANGIO-TAC que resulta negativo para ET. DISCUSIÓN: En la evaluación ecográfica antenatal, la presencia de tumores intracardiacos asociados a tumor cerebral hace plantear el diagnóstico de una ET. El diagnóstico antenatal de tumores cerebrales vs HIV por ultrasonido es difícil. La resonancia es un examen complementario de gran ayuda, permitiendo un diagnóstico de certeza. La HIV fetal es un diagnóstico poco frecuente de diagnostico prenatal asociado a feto con trisomia 21.


INTRODUCTION: Down Syndrome (DS) is one of the most frequent aneuploidies. In our country its incidence is 2.2 every 1000 newborns. Tuberous sclerosis (TS) is a dominant autosomal genetic disease with a prevalence of 1:6000 to 1:10.000 newborns, this disease is suspected by the finding of cardiac rhabdomyomas. Rhabdomyomas are the most prevalent fetal heart tumors. Intracranial tumors are a rare prenatal finding in ultrasound the main differential diagnosis is Intraventricular Hemorrhage (IVH). The Objective of this paper is present a case report of a fetus with trisomy 21 plus rhabdomyomas and cranial tumors. CASE REPORT: 29 years old patient, referred for ultrasound at 27+4 week. Cardiac tumors and aneuploidy soft markers are found. Genetic amniocentesis is performed (Result: 47, XX+21). At 32+0 weeks ultrasound finding of intracranial tumor. Fetal MRI was performed which reports suspected IVH. Confirmed postnatally. Baby was delivered at term. Neonatal findings: Trisomy 21 phenotype, Echocardiogram with two cardiac tumors (Rhabdomyomas), neonatal brain ultrasound confirms Grade III - IVH. To rule out TS, an Angio-CT is performed which is negative for the disease. DISCUSSION: Cardiac Tumors associated to brain tumors in antenatal period make TS a possible diagnosis. Differentiate brain tumors and IVH by ultrasound is very difficult. MRI is a very helpful tool for an accurate diagnostic. IVH is a rare antenatal diagnosis. Not reported before in a baby with trisomy 21.


Subject(s)
Humans , Female , Pregnancy , Adult , Rhabdomyoma/diagnostic imaging , Tuberous Sclerosis/diagnostic imaging , Down Syndrome , Intracranial Hemorrhages/diagnostic imaging , Heart Neoplasms/diagnostic imaging , Prenatal Diagnosis , Diagnosis, Differential , Karyotype , Amniocentesis
20.
Biosci. j. (Online) ; 36(3): 1018-1023, 01-05-2020. ilus, tab
Article in English | LILACS | ID: biblio-1147194

ABSTRACT

Ameivula is as a new genus of Teiidae family that emerged after extensive revision of species that comprised the former complex of species called Cnemidophorus group. Its species has a wide distribution from the northeast of Brazil to northern Argentina. Cytogenetic studies in the Teiidae family have shown that karyotypical data are important tools in phylogenetic and systematic studies within this group allowing to determine the position of species in the family. Thus, this study aimed to describe the karyotype of Ameivulaocellifera (Spix, 1825) from Picos, Piauí state in the Brazilian Northeast. Specimens were collected from August 2014 to October 2015 using interception traps and pitfalls, mounted randomly along the Caatinga area. The animals were collected and transported to Federal Institute of Piauí, campus Picos, where was carried out all laboratory procedures. Individuals analyzed showed a diploid number of 2n = 50 for both sexes, with karyotype composed by 30 macrochromosomes and 20 microchromosomes of telocentric and subtelocentric types. There were no heteromorphic sex chromosomes in the studied specimens. C-band technique evidenced the heterochromatic blocks in pericentromeric and telomeric regions of chromosomes. The nucleolar organizing regions appeared as a simple unit located at the terminal portion of the long arm of chromosomal pair number 5. The chromosomal characteristics of A. ocellifera analyzed do not show divergences regarding individuals from other regions. However, the nucleolar organizing regions seems to be a good chromosomal marker that permits to distinguish the species already studied.


Ameivula é um novo gênero da família Teiidae que surgiu após extensa revisão de espécies que compuseram o antigo complexo de espécies chamado grupo Cnemidophorus. Suas espécies têm uma ampla distribuição do nordeste do Brasil ao norte da Argentina. Estudos citogenéticos na família Teiidae mostraram que os dados cariotípicos são ferramentas importantes em estudos filogenéticos e sistemáticos dentro deste grupo, permitindo determinar a posição das espécies na família. Assim, este estudo tem como objetivo descrever o cariótipo de Ameivula ocellifera (Spix, 1825) de Picos, no nordeste brasileiro. Os espécimes foram coletados de agosto de 2014 a outubro de 2015 utilizando armadilhas de interceptação e armadilhas, montadas aleatoriamente ao longo da área da Caatinga. Os animais foram coletados e transportados para o Instituto Federal do Piauí, campus Picos, onde foram realizados todos os procedimentos laboratoriais. Os indivíduos analisados apresentaram um número diploide de 2n = 50 para ambos os sexos, com cariótipo composto por 30 macrocromossomos e 20 microcromossomos dos tipos telocêntrico e subtelocêntrico. Não houve cromossomos sexuais heteromórficos nos espécimes estudados. A técnica da banda C evidenciou os blocos heterocromáticos nas regiões pericentroméricas e teloméricas dos cromossomos. As regiões organizadoras de nucléolos apareceram como uma unidade simples localizada na porção terminal do braço longo do par cromossômico número 5. As características cromossômicas de A. ocellifera analisadas não mostram divergências em relação a indivíduos de outras regiões. No entanto, as regiões organizadoras de nucléolos parecem ser um bom marcador cromossômico que permite distinguir as espécies já estudadas.


Subject(s)
Cytogenetics , Karyotype
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