Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 12.342
Filtrar
1.
PLoS One ; 15(7): e0235788, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32634157

RESUMO

The genus Makalata is a taxonomically complex group of rodents on which few cytogenetic studies have been performed. Most of the published karyotypes were described based only on conventional chromosome staining. Here, we studied the karyotypes of Makalata from two Brazilian Amazonian states, Amapá and Pará, by Giemsa-staining, G- and C-banding, AgNO3-staining and FISH with 18S rDNA and telomeric sequences probes. We observed 2n = 66/FN = 124 in the Pará state population in Makalata sp; and 2n = 72/FN = 128 in the Amapá state population in M. didelphoides. Multiple chromosome rearrangements may have given rise to these karyotypes, which differ significantly from each other and from those reported in the literature. The chromosomal differences among the described Makalata karyotypes can act as a barrier to gene flow; since they are also associated with geographic barriers (e.g., rivers) and numerous molecular differences, they could be seen as evidence for reproductive isolation of populations from genus Makalata. Our data suggest that the genus is chromosomally diverse and the karyotypes may belong to different species. These karyotypes may prove useful as taxonomic markers for these rodents.


Assuntos
Cariótipo , Roedores/genética , Animais , Brasil , Bandeamento Cromossômico , DNA Ribossômico/genética , Fluxo Gênico , Cariotipagem , Roedores/classificação , Especificidade da Espécie , Telômero/genética
2.
PLoS One ; 15(6): e0234331, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32525943

RESUMO

The hyline tribe Lophyohylini includes 87 species of treefrogs, of which cytogenetics aspects have been studied in less than 20% of them. In order to evaluate the evolution of some of its chromosome characters (NOR position, C-bands, and DAPI/CMA3 bands), we studied the karyotypes of 21 lophyohylines, 16 of them for the first time, and analyzed them in a phylogenetic context. Most species showed similar karyotypes regarding chromosome number (2n = 24) and morphology (FN = 48), excepting Phyllodytes edelmoi and Osteocephalus buckleyi with 2n = 22 (FN = 44) and 2n = 28 (FN = 50), respectively. The NOR location was variable among species and provided valuable phylogenetic information. This marker was located in pair 11 in all species of Trachycephalus, Itapotihyla langsdorffii, and Nyctimantis arapapa, representing the plesiomorphic condition of Lophyohylini. Besides, other apomorphic states were recovered for the clades comprising N. rugiceps and N. siemersi (NOR in pair 5), and Dryaderces pearsoni, Osteocephalus, and Osteopilus (NOR in pair 9). Phyllodytes presented variation for NORs position; they were in pair 2 in P. edelmoi, pair 7 in P. melanomystax, and pair 8 in P. gyrinaethes and P. praeceptor. Polymorphisms in size, number, and activity of this marker were observed for N. siemersi, Osteocephalus fuscifacies, and some species of Trachycephalus. Remarkably, in N. siemersi NORs were detected on a single chromosome in the two specimens studied by this technique, raising the question of how this complex polymorphism is maintained. Interstitial telomeric sequences were found in P. edelmoi, P. melanomystax, and Osteocephalus buckleyi, and their presence seems to be not related to the chromosome reorganization events. Finally, some species showed spontaneous rearrangements, possibly as a consequence of an uncommon phenomenon in anuran cytogenetics: the presence of fragile sites or secondary constrictions not associated with NORs. We propose that this rare feature would have played an important role in the evolution of this group of frogs. From the evidence obtained in this and previous studies, we conclude that Lophyohylini presents a complex chromosome evolution.


Assuntos
Anuros/genética , Cromossomos/genética , Animais , Anuros/classificação , Bandeamento Cromossômico , Sítios Frágeis do Cromossomo/genética , Cromossomos/ultraestrutura , Análise Citogenética , Evolução Molecular , Feminino , Cariótipo , Masculino , Região Organizadora do Nucléolo/genética , Região Organizadora do Nucléolo/ultraestrutura , Filogenia , Polimorfismo Genético , América do Sul , Especificidade da Espécie , Telômero/genética
3.
Cytogenet Genome Res ; 160(4): 206-213, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32485719

RESUMO

Studies in several organisms have contributed to the understanding of heterochromatin and its biological importance. In bees of the tribe Meliponini, the presence of chromosomes with totally heterochromatic arms has been attributed to the mechanism of karyotype evolution in which this group accumulated heterochromatin to maintain telomere stability after centric fission events. In the present study, the use of classical and molecular cytogenetic techniques as well as automated image analysis software for the description of the karyotypes of Partamonachapadicola and P. nhambiquara bee species revealed variability in the compaction and patterns of chromatin structure. Although both species have the same chromosome number as other species in the genus Partamona (2n = 34), C-banding and image analyses indicated the existence of chromosomes with 3 regions of different staining intensities, suggesting a chromatin structure with distinct patterns and characteristics. Repetitive DNA probes hybridized only in the euchromatic regions, whereas the regions with intermediate staining intensity did not show any hybridization signals. This suggests that these regions present features more similar to heterochromatin. Evidence of the existence of a chromatin class with intermediate condensation compared to euchromatin and heterochromatin indicates a potential mechanism for heterochromatin amplification and demonstrates the need for further studies on this topic. This previously unrecognized class of chromatin should be taken into account in the study of all Meliponini chromosomes.


Assuntos
Abelhas/classificação , Abelhas/genética , Cromatina/genética , Cromatina/metabolismo , Cariotipagem , Animais , Bandeamento Cromossômico , Feminino , Indóis , Masculino , Metáfase
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(5): 532-534, 2020 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-32335879

RESUMO

OBJECTIVE: To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities. METHODS: Chromosomal karyotypes of the proband and his parents were determined by routine G-banding analysis. Genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array). RESULTS: The karyotype of the proband was 46,X,add(Y)(q11.23). No karyotypic abnormality was detected in either parent. SNP array has identified a de novo 21.6 Mb duplication at 22q12qter in the proband. CONCLUSION: The de novo 22q12qter duplication probably underlies the abnormalities in the proband.


Assuntos
Anormalidades Múltiplas , Cromossomos Humanos Par 22 , Trissomia , Anormalidades Múltiplas/genética , Adulto , Criança , Bandeamento Cromossômico , Cromossomos Humanos Par 22/genética , Feminino , Testes Genéticos , Humanos , Deficiência Intelectual/genética , Cariotipagem , Masculino
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(4): 475-478, 2020 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-32219841

RESUMO

OBJECTIVE: To explore the genetic basis for a child with supravalvular aortic stenosis. METHODS: The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis. RESULTS: No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings. CONCLUSION: The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.


Assuntos
Estenose Aórtica Supravalvular/genética , Deleção de Genes , Síndrome de Williams/genética , Criança , Bandeamento Cromossômico , Cromossomos Humanos Par 7/genética , Hibridização Genômica Comparativa , Testes Genéticos , Humanos , Síndrome de Williams/complicações
6.
Cancer Genet ; 242: 35-40, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32035866

RESUMO

In multiple myeloma (MM), MYC rearrangements that result in increased MYC expression are associated with an aggressive form of MM and adverse outcome. However, the consequences of MYC amplification in MM remain unclear. Here, we describe an unusual case of plasma cell leukemia (PCL) harboring MYC amplification on double minute chromosomes (dmin). A 79-year-old woman was initially diagnosed as having BJP-κ type MM with bone lesions. After seven months, the disease progressed to secondary PCL: leukocytes 49.1 × 109/L with 77% plasma cells showing lymphoplasmacytic appearance. The bone marrow was infiltrated with 76% plasma cells immunophenotypically positive for CD38 and negative for CD45, CD19, CD20, and CD56. The karyotype by G-banding and spectral karyotyping was 48,XX,der(14)t(11;14)(q13;q32),+der(14)t(14;19)(q32;q13.1),+18,6~95dmin[15]/46,XX[5]. Fluorescence in situ hybridization detected multiple MYC signals on dmin and double IGH/CCND1 fusion signals on der(14)t(11;14) and der(14)t(14;19). Most plasma cells were diffusely and strongly positive for MYC and CCND1 by immunohistochemistry. The patient died of progressive disease after one week. MYC amplification led to high expression of MYC and rapid disease progression, indicating its clinical significance in the pathogenesis of MM/PCL. MYC amplification on dmin may be a very rare genetic event closely associated with the progression to PCL and coexistence of IGH/CCND1 fusions.


Assuntos
Herança Extracromossômica , Amplificação de Genes , Genes myc , Leucemia Plasmocitária/genética , Mieloma Múltiplo/genética , Proteínas de Fusão Oncogênica/genética , Idoso , Medula Óssea/patologia , Aberrações Cromossômicas , Bandeamento Cromossômico , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 11/ultraestrutura , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 14/ultraestrutura , Progressão da Doença , Evolução Fatal , Feminino , Duplicação Gênica , Humanos , Hibridização in Situ Fluorescente , Leucemia Plasmocitária/patologia , Mieloma Múltiplo/patologia , Translocação Genética
7.
Cancer Genet ; 242: 8-14, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32058318

RESUMO

Acute lymphoblastic leukaemia (ALL) is the most common childhood malignancy with the majority of patients being classified as B-cell lineage (B-ALL). The sub-classification of B-ALL is based on genomic architecture. Recent studies have demonstrated the capability of SNP-microarrays to detect genomic changes in B-ALL which cannot be observed by conventional cytogenetic methods. In current clinical trials, B-ALL patients at high risk of relapse are mainly identified by adverse cancer genomics and/or poor response to early therapy. To test the hypothesis that inclusion of SNP-microarrays in frontline diagnostics could more efficiently and accurately identify adverse genomic factors than conventional techniques, we evaluated the Australian high-risk B-ALL cohort enrolled on AIEOP-BFM ALL 2009 study (n = 33). SNP-microarray analysis identified additional aberrations in 97% of patients (32/33) compared to conventional techniques. This changed the genomic risk category of 24% (8/33) of patients. Additionally, 27% (9/33) of patients exhibited a 'hyperdiploid' genome, which is generally associated with a good genomic risk and favourable outcomes. An enrichment of IKZF1 deletions was observed with one third of the cohort affected. Our findings suggest the current classification system could be improved and highlights the need to use more sensitive techniques such as SNP-microarray for cytogenomic risk stratification in B-ALL.


Assuntos
Fator de Transcrição Ikaros/genética , Análise de Sequência com Séries de Oligonucleotídeos , Polimorfismo de Nucleotídeo Único , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Adolescente , Austrália , Criança , Pré-Escolar , Aberrações Cromossômicas , Bandeamento Cromossômico , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Feminino , Proteínas de Fusão bcr-abl/genética , Deleção de Genes , Rearranjo Gênico de Cadeia Pesada de Linfócito B , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Perda de Heterozigosidade , Masculino , Neoplasia Residual , Proteínas de Fusão Oncogênica/genética , Poliploidia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/classificação , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Estudos Prospectivos , Medição de Risco , Deleção de Sequência
8.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 127-130, 2020 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-32034736

RESUMO

OBJECTIVE: To explore the genetic basis for a child with mentally retardation. METHODS: G-banding karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were performed for the child. Karyotyping and FISH were also carried out for her parents. RESULTS: SNP-array has detected a 5077 kb microdeletion at 5q35.2q35.3 and a 4964 kb microduplication at 7q36.2q36.3 in the child. The results were confirmed by FISH. Based on above results, the father was subsequently found to carry a cryptic t(5;7) (q35.2; q36.2) translocation. The child was verified to have inherited a der(5) t(5;7)(q35.2; q36.2) from her father. CONCLUSION: The 5077 kb microdeletion at 5q35.2q35.3 may have predisposed to the Sotos syndrome in the child. SNP-array combined with G-banding karyotyping and FISH can help to detect cryptic chromosomal translocations among patients.


Assuntos
Síndrome de Sotos , Criança , Bandeamento Cromossômico , Feminino , Testes Genéticos , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único , Síndrome de Sotos/genética , Translocação Genética
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 170-174, 2020 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-32034748

RESUMO

OBJECTIVE: To explore the basis for a child with multiple malformations and correlate her genotype with phenotype. METHODS: The child was subjected to G-banding chromosomal analysis first, and low-coverage massively parallel copy number variation sequencing (CNV-seq) was used to define the aberrant region. The results were verified by fluorescence in situ hybridization (FISH). RESULTS: The child was found to have a karyotype of 46,XX,3pter+?. CNV-seq has identified a 13.5 Mb duplication at 10p13p15.3(60 466-13 556 655) and a 636 kb microdeletion at 3p26.3 (60 064-695 821). Her karyotype was the refore specified as 46, XX, ish der(3) t(3;10) (10p+,3pdim) by FISH. Both of her parents were normal, which suggested an de novo origin of the above variant. CONCLUSION: The de novo 10p13p15.3 duplication probably underlies the mental retardation, development delay, dysmorphism, and gastroesophageal reflux in the child. The CHL1 gene from the 3p26.3 region may play an important role in the formation and function of the brain, which may underlie the intellectual deficit in this child.


Assuntos
Anormalidades Múltiplas , Deficiência Intelectual , Anormalidades Múltiplas/genética , Criança , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos , Variações do Número de Cópias de DNA , Feminino , Humanos , Hibridização in Situ Fluorescente , Fenótipo
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 175-177, 2020 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-32034749

RESUMO

OBJECTIVE: To explore the genetic basis for a child featuring delayed language development. METHODS: The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP array) analysis. RESULTS: The karyotype of the child was 46, XY, r(22)(p11.2q13). SNP array analysis has identified a hemizygous 1.67 Mb deletion at 22q13 (arr [Hg19]22q13.33 (49 531 302-51 197 766)×1). CONCLUSION: The child has carried a ring 22 in addition with a 22q13 microdeletion. The results may provide clues for her condition and genetic counseling for the family.


Assuntos
Aconselhamento Genético , Desenvolvimento da Linguagem , Polimorfismo de Nucleotídeo Único , Criança , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 22 , Feminino , Humanos , Cariotipagem
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 178-181, 2020 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-32034750

RESUMO

OBJECTIVE: To explore the genetic etiology of a child with autism, mental retardation and epilepsy. METHODS: Conventional G-banding chromosomal analysis was carried out. Chromosomal variation was also detected by single nucleotide polymorphism microarray (SNP array). Pathogenic mutations were screened by high-throughput sequencing and validated by Sanger sequencing. Pathologic significance of the candidate mutations was analyzed through search of database and literature review. RESULTS: No karyotypic abnormality was found with the child and his parents, while SNP array has detected a 460 kb deletion in the 14q11.2 region in the child. High-throughput and Sanger sequencing revealed a novel mutation of the NALCN gene in the child, in addition with a hemizygous mutation of the COL4A5 gene in the child and his mother. CONCLUSION: The 14q11.2 microdeletion and NALCN mutation may contribute to the autism, mental retardation and epilepsy in this child.


Assuntos
Deleção Cromossômica , Deficiência Intelectual , Criança , Bandeamento Cromossômico , Cromossomos Humanos Par 14 , Testes Genéticos , Humanos , Canais Iônicos , Cariotipagem , Proteínas de Membrana , Mutação , Canais de Sódio
12.
Cytogenet Genome Res ; 160(1): 22-28, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32018267

RESUMO

We report on a novel variant of the dicentric chromosome 17;20 (dic (17;20)(p11.2;q11.2) in a patient with de novo myelodysplastic syndrome (MDS). Based on FISH and array-CGH, the variant turns out to be an insertion of chromosome 17 (17p11.2-telomere 17) into chromosome 20 with breakpoints at 20q11.22 and 20q13.33. Based on conventional chromosome analysis and G-banding patterns, the region 17p11.2-17q25 was directly inserted between 20q11.22 and 20q13.33. The breakpoint junctions occurred within KCNJ12 (17p11.2), UQCC1 (20q11.2), and CDH4 (20q13.3), leading to 5' deletions of all the genes and positioning the 3' of UQCC1 next to KCNJ12 at 17p11.2 and CDH4 next to an unknown gene at 17q25-20q13.3. In addition, the centromere of chromosome 17 was not active, transforming the primary constriction to a flat band. Therefore, the novel insertion variant is a pseudo dicentric derivative chromosome with one functional centromere: 45,XX,der(17;20)del(20)(q11.22q13.33)ins(20;17)(q11.2;p11.2q25). A review of the literature of all dic(17;20) cases is presented. For the first time, we report an array-CGH characterization of such rare variant that revealed to be an insertion.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 20/genética , Hibridização Genômica Comparativa , Síndromes Mielodisplásicas/genética , Linhagem da Célula , Centrômero/ultraestrutura , Bandeamento Cromossômico , Deleção Cromossômica , Feminino , Rearranjo Gênico , Humanos , Cariotipagem , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Canais de Potássio Corretores do Fluxo de Internalização/genética , Translocação Genética
13.
Cytogenet Genome Res ; 160(1): 29-37, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32092757

RESUMO

The fish family Cynodontidae belongs to the superfamily Curimatoidea, together with the Hemiodontidae, Serrasalmidae, Parodontidae, Prochilodontidae, Chilodontidae, Curimatidae, and Anostomidae. The majority of the species of this superfamily that have been analyzed to date have a diploid chromosome number of 2n = 54. Differentiated sex chromosomes (with female heterogamety) have been observed only in the Prochilodontidae, Parodontidae, and Anostomidae. The present study provides the first description of differentiated sex chromosomes in the cynodontid species Cynodon gibbus, which has a ZZ/ZW system, and shows that repetitive DNA has played a fundamental role in the differentiation of these sex chromosomes.


Assuntos
Caraciformes/genética , Cromossomos Sexuais , Animais , Bandeamento Cromossômico , DNA , Evolução Molecular , Feminino , Heterocromatina/química , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Hibridização de Ácido Nucleico , Sequências Repetitivas de Ácido Nucleico
14.
Am J Case Rep ; 21: e918128, 2020 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-31927558

RESUMO

BACKGROUND This paper aims to highlight the presence of primary congenital glaucoma (PCG) in a patient with chromosome 1 q31 and q42.1 deletion of the distal long arm. The characteristic combination of phenotypic features in this deletion include dysmorphic features, psychomotor retardation and neurological signs; however, PCG has never been recognized as part of these features before. CASE REPORT This is a case of an 8-year-old female with chromosome 1 q31 and q42.1 deletion with congenital glaucoma since birth. She was found to have bilateral buphthalmos and large cloudy corneas and was also unable to follow or fixate in any directional gaze with either eye. Family history was negative for congenital glaucoma and both parents are healthy and non-consanguineous. Karyotyping showed chromosome 1 microdeletion, 46, XX, del (1) (q31q42.1) on high resolution G-banding. Further genetic testing showed no mutations in the CYP1B1 gene. CONCLUSIONS In summary, we describe a rare presentation of congenital bilateral glaucoma in the context of chromosome 1 q31 and q42.1 deletion. This clinical manifestation is uncommon when compared with that of other subsets of chromosome 1 deletions. Thus, we emphasize the need to explore factors contributing to the development of PCG in patients with chromosomal 1 deletion.


Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 1/genética , Glaucoma/congênito , Criança , Bandeamento Cromossômico , Feminino , Testes Genéticos , Humanos , Cariotipagem , Fenótipo
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 64-66, 2020 Jan 10.
Artigo em Chinês | MEDLINE | ID: mdl-31922600

RESUMO

OBJECTIVE: To explore the genetic basis of a child with developmental delay and intellectual disability. METHODS: Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis. RESULTS: No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus. CONCLUSION: 15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.


Assuntos
Duplicação Cromossômica , Cromossomos Humanos Par 15 , Deficiência Intelectual , Proteínas Adaptadoras de Transdução de Sinal , Criança , Bandeamento Cromossômico , Cromossomos Humanos Par 15/genética , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Deficiência Intelectual/genética , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal
17.
Anticancer Res ; 40(1): 97-100, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31892557

RESUMO

BACKGROUND/AIM: Chronic expanding hematoma is defined as a hematoma that gradually expands over 1 month or longer, is without neoplastic features on histological sections, and does not occur in the setting of coagulopathy. The pathogenetic mechanism behind its development is unknown, nor is anything known about its genetic features. CASE REPORT: A 49-year-old man noted a tender lump close to the right femoral trochanter. Examination of a core needle biopsy showed a fibrous capsule with fibrinoid material on one side. The patient underwent surgery with removal of a cystic, encapsulated structure with central bleeding and proliferating vessels in the fibrous capsule. The reactive fibroblasts were without any sign of atypia. Genetic analyses were performed on this chronic expanding hematoma. RESULTS: G-Banding analysis of short-term cultured cells from the chronic expanding hematoma yielded a karyotype with a single clonal chromosome abnormality: 46,XY,t(11;19)(q13;q13)[8]/46,XY[10]. RNA sequencing and examination of the sequencing data using five different programs did not identify fusion genes related to the translocation. CONCLUSION: The acquired translocation t(11;19)(q13;q13) suggested that chronic expanding hematoma is a neoplastic lesion. Since the translocation did not lead to any fusion genes, one can speculate that it causes deregulation of gene expression.


Assuntos
Cromossomos Humanos Par 11 , Cromossomos Humanos Par 19 , Estudos de Associação Genética , Predisposição Genética para Doença , Hematoma/diagnóstico , Hematoma/genética , Translocação Genética , Biópsia , Bandeamento Cromossômico , Doença Crônica , Progressão da Doença , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade
18.
Neoplasma ; 67(1): 185-192, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31777259

RESUMO

To date, no specific pattern of chromosomal abnormalities has been established in gastric cancer (GC). Cytogenetic analysis was performed using G-banding and fluorescence in situ hybridization (FISH) in 9 ascetic fluids from GC patients, and the clustering patterns of chromosomal abnormalities were studied. Twenty-six different types of chromosomal abnormalities were identified. In contrast to structural abnormalities, the gain or loss of chromosomes was infrequent. Moreover, five main clusters of chromosomal abnormalities were identified by clustering analysis. Extensive cytogenetic complexity, specific chromosomal abnormalities and karyotype heterogeneity are the main characterizations of GC. Some of the recurrent and novel chromosomal abnormalities with distinct clustering patterns identified in this study may play important roles for GC initiation and progression and could serve as promising diagnostic and prognostic markers in GC patients.


Assuntos
Ascite/genética , Aberrações Cromossômicas , Neoplasias Gástricas/genética , Bandeamento Cromossômico , Análise por Conglomerados , Humanos , Hibridização in Situ Fluorescente
19.
Cancer Genomics Proteomics ; 17(1): 41-48, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31882550

RESUMO

BACKGROUND/AIM: The chromosome translocation t(14;21)(q11;q22) was reported in four pediatric T-cell lymphoblastic leukemias and was shown to activate the OLIG2 gene. MATERIALS AND METHODS: A pediatric T-cell lymphoblastic lymphoma was investigated using G-banding chromosome analysis, fluorescence in situ hybridization (FISH), and immunocytochemistry. RESULTS: The malignant cells carried a t(14;21)(q11;q22) aberration. The translocation moves the enhancer elements of TRA/TRD from band 14q11 to 21q22, a few thousands kbp downstream of OLIG1 and OLIG2, resulting in the production of both OLIG1 and OLIG2 proteins. CONCLUSION: The translocation t(14;21)(q11;q22) occurs in some pediatric T-cell lymphoblastic malignancies. Activation of both OLIG1 and OLIG2 by t(14;21)(q11;q22) in T-lymphoblasts and the ensuing deregulation of thousands of genes could explain the highly malignant disease and resistance to treatment that has characterized this small group of patients.


Assuntos
Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 21/genética , Proteínas do Tecido Nervoso/genética , Fator de Transcrição 2 de Oligodendrócitos/genética , Leucemia-Linfoma Linfoblástico de Células T Precursoras/patologia , Translocação Genética , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Bandeamento Cromossômico , Evolução Fatal , Humanos , Hibridização in Situ Fluorescente , Masculino , Leucemia-Linfoma Linfoblástico de Células T Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células T Precursoras/genética , Prognóstico
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(12): 1199-1202, 2019 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-31813147

RESUMO

OBJECTIVE: To carry out genetic testing for a boy presenting with mental retardation and hypoplasia. METHODS: Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents. RESULTS: SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46,XX,ish ins(11;2) (p15;q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46,XY,ish der(11)ins(11;2) (p15;q33q36)mat. CONCLUSION: SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.


Assuntos
Hipospadia/genética , Deficiência Intelectual/genética , Cariotipagem , Criança , Bandeamento Cromossômico , Duplicação Cromossômica , Feminino , Testes Genéticos , Humanos , Hibridização in Situ Fluorescente , Masculino , Polimorfismo de Nucleotídeo Único , Gravidez , Translocação Genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA