Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 12.249
Filtrar
1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 1031-1034, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598954

RESUMO

OBJECTIVE: To emphasize the clinical significance of copy number variations (CNVs) detection by describing a case misdiagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. METHODS: A girl with obesity and short stature was diagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. Considering the discrepancy of her karyotype with her phenotype, genomic CNVs was detected by next-generation sequencing and the result was verified by quantitative PCR (qPCR). RESULTS: A microduplication of 16p11.2: 29 642 339-29 775 631 (133.292 kb) was detected. qPCR assay for QPRT and SPN located in the duplicated region confirmed the finding of CNVs assay. Meanwhile, her parents did not present similar duplication in 16p11.2. CONCLUSION: The 16p11.2 microduplication was a novel genomic structural variation in the girl, though it may not be associated with her clinical manifestations. Chromosomal microarray or next-generation sequencing-based CNVs detection can accurately determine the origin of small supernumerary marker chromosome and reduce the chance of misdiagnosis.


Assuntos
Cromossomos Humanos Par 21/genética , Erros de Diagnóstico , Síndrome de Down , Cariotipagem , Trissomia/diagnóstico , Bandeamento Cromossômico , Variações do Número de Cópias de DNA , Feminino , Humanos
2.
Cytogenet Genome Res ; 158(3): 152-159, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31272100

RESUMO

Among birds, species with the ZZ/ZW sex determination system generally show significant differences in morphology and size between the Z and W chromosomes (with the W usually being smaller than the Z). In the present study, we report for the first time the karyotype of the spot-flanked gallinule (Gallinula melanops) by means of classical and molecular cytogenetics. The spot-flanked gallinule has 2n = 80 (11 pairs of macrochromosomes and 29 pairs of microchromosomes) with an unusual W chromosome that is larger than the Z. Besides being totally heterochromatic, it has a secondary constriction in its long arm corresponding to the nucleolar organizer region, as confirmed by both silver staining and mapping of 18S rDNA probes. This is an unprecedented fact among birds. Additionally, 18S rDNA sites were also observed in 6 microchromosomes, while 5S rDNA was found in just 1 microchromosomal pair. Seven out of the 11 used microsatellite sequences were found to be accumulated in microchromosomes, and 6 microsatellite sequences were found in the W chromosome. In addition to the involvement of heterochromatin and repetitive DNAs in the differentiation of the large W chromosome, the results also show an alternative scenario that highlights the plasticity that shapes the evolutionary history of bird sex chromosomes.


Assuntos
Aves/genética , Evolução Molecular , Sequências Repetitivas de Ácido Nucleico/genética , Cromossomos Sexuais/genética , Animais , Bandeamento Cromossômico , Mapeamento Cromossômico , Feminino , Cariótipo , Repetições de Microssatélites/genética , Região Organizadora do Nucléolo/genética
3.
Cytogenet Genome Res ; 158(4): 199-204, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31315112

RESUMO

Here, we report a molecular characterization of a small supernumerary marker chromosome (sSMC) derived from the most proximal region of 13q present in a fetus with coarctation of the aorta at ultrasound examination during prenatal diagnosis. Cultured umbilical cord blood cells showed a de novo extra ring-shaped sSMC in 76% of the cells using a standard banding technique. SNP array revealed a tetrasomy of about 28.4 Mb in the long arm of chromosome 13 from band 13q11 to 13q14.11 in the fetus's cells. Metaphase/interphase FISH using specific probes located at 13q11, 13q12.11, and 13q14.11, respectively, demonstrated that the supernumerary ring chromosome was derived from an inverted duplication of the region 13q11q14.11 with a conventional centromere. To the best of our knowledge, this is the first time that an inverted duplication of the most proximal region 13q11q14.11 in a ring chromosome is characterized. The findings we presented here deepen our understanding of the clinical consequences of tetrasomy in this region and may be of help for further studies of critical regions in chromosome 13.


Assuntos
Coartação Aórtica/genética , Duplicação Cromossômica/genética , Cromossomos Humanos Par 13/genética , Doenças Fetais/genética , Diagnóstico Pré-Natal , Cromossomos em Anel , Tetrassomia/genética , Adulto , Centrômero/genética , Bandeamento Cromossômico , Feminino , Doenças Fetais/diagnóstico , Feto/metabolismo , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único/genética , Gravidez
4.
Hum Genet ; 138(10): 1145-1153, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31321490

RESUMO

The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33-q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. Local database search yielded eight new patients with 13q33.1-q34 microdeletions (three of which had additional copy number variants). Combined with 15 cases detected by literature search, an additional 23 cases were reported in DECIPHER database, and 17 cases from ClinVar, so overall 60 patients with isolated 13q33.1-q34 microdeletions were described. Developmental delay and/or intellectual disability were noted in the vast majority of affected individuals (81.7% = 49/60). Of the 23 deletions involving the 13q34 cytoband only, in 3 cases, developmental delay and/or intellectual disability was not reported. Interestingly, in two of these cases (66.7%), the deletions did not involve the terminal CHAMP1 gene, as opposed to 3/20 (15%) of patients with 13q34 deletions and neurocognitive disability. Facial dysmorphism and microcephaly were reported in about half of the overall cases, convulsions were noted in one-fifth of the patients, while heart anomalies, short stature and hypotonia each involved about 10-30% of the cases. None of the 13q33-q34 deletions were inherited from a reported healthy parent. 13q33-q34 microdeletions are rare chromosomal aberrations, associated with high risk for neurodevelopmental disability. The rarity of this chromosomal aberration necessitates continuous reporting and collection of available evidence, to improve the ability to provide accurate genetic counseling, especially in the context of prenatal setting.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 13 , Fenótipo , Adolescente , Adulto , Criança , Pré-Escolar , Bandeamento Cromossômico , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Adulto Jovem
5.
Cytogenet Genome Res ; 158(2): 98-105, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31158838

RESUMO

As in many other bird groups, data on karyotype organization and distribution of repetitive sequences are also lacking in species belonging to the family Hirundinidae. Thus, in the present study, we analyzed the karyotypes of 3 swallow species (Progne tapera, Progne chalybea, and Pygochelidon cyanoleuca) by Giemsa and AgNOR staining, C-banding, and FISH with 11 microsatellite sequences. The diploid chromosome number was 2n = 76 in all 3 species, and NORs were observed in 2 chromosome pairs each. The microsatellite distribution pattern was similar in both Progne species, whereas P. cyanoleuca presented a distinct organization. These repetitive DNA sequences were found in the centromeric, pericentromeric, and telomeric regions of the macrochromosomes, as well as in 2 interstitial blocks in the W chromosome. Most microchromosomes had mainly telomeric signals. The Z chromosome displayed 1 hybridization signal in P. tapera but none in the other species. In contrast, the W chromosome showed an accumulation of different microsatellite sequences. The swallow W chromosome is larger than that of most Passeriformes. The observed enlargement in chromosome size might be explained by these high amounts of repetitive sequences. In sum, our data highlight the significant role that microsatellite sequences may play in sex chromosome differentiation.


Assuntos
Análise Citogenética/veterinária , Cariótipo , Andorinhas/genética , Animais , Bandeamento Cromossômico/veterinária , Evolução Molecular , Feminino , Hibridização in Situ Fluorescente/veterinária , Masculino , Repetições de Microssatélites
6.
Cytogenet Genome Res ; 158(3): 145-151, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31234172

RESUMO

Classical cytogenetics and mapping of 18S-28S rDNA and (TTAGGG)n sequences by fluorescence in situ hybridization (FISH) was performed on Graphiurus platyops (GPL) and Graphiurus ocularis (GOC) metaphases with the aim to characterize the genomes. In both species, inverted DAPI karyotypes showed the same diploid number, 2n = 46, and hybridization of the (TTAGGG)n probe revealed interstitial telomeric sequences (ITSs) at the centromeres of almost all bi-armed chromosomes. FISH with the rDNA probe localized nucleolus organizer regions (NORs), at the terminal ends of the p arms of the subtelocentric pairs 16 and 17 in both species and detected additional signals on GPL8 and GOC18, 19, and 22. The species have similar karyotypes, but their chromosome pairs 18-22 differ in morphology; these are acrocentric in G. platyops, as also confirmed by C-banding, and subtelocentric in G. ocularis. These differences in pairs 18-22 were also highlighted by hybridization of the telomeric probe (TTAGGG)n, which showed the small p arms in G. ocularis enriched with ITSs. FISH of rDNA probes detected multiple NOR loci in G. ocularis, underlining the intense evolutionary dynamics related to these genes. Although the Graphiurus species analyzed have similar karyotypes, the results on the repetitive sequences indicate a complex pattern of genomic reorganization and evolution occurring in these phylogenetically close species.


Assuntos
Cromossomos de Mamíferos/genética , DNA Ribossômico/genética , Myoxidae/genética , RNA Ribossômico 18S/genética , RNA Ribossômico 28S/genética , Animais , Sequência de Bases , Bandeamento Cromossômico , Hibridização in Situ Fluorescente , Cariótipo , Masculino , África do Sul
7.
Cytogenet Genome Res ; 158(1): 38-45, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31079097

RESUMO

Karyotypes and chromosomal characteristics with focus on B chromosomes of 2 species of the serrasalmid genus Metynnis, namely M. lippincottianus and M. maculatus, were examined using conventional (C-banding) and molecular (FISH mapping of minor and major rDNAs and Rex1, Rex3, and Rex6 retrotransposable elements) protocols. Both species possessed a diploid chromosome number of 2n = 62 and karyotypes composed of 32 metacentric + 28 submetacentric + 2 subtelocentric and 32 metacentric + 26 submetacentric + 4 subtelocentric, respectively; one small B element was found in the female genome of M. lippincottianus. C-banding revealed heterochromatin in the pericentromeric and terminal portions of all chromosomes of both species; the B chromosome was entirely heterochromatic. FISH showed 18S rDNA sites in 2 chromosome pairs in both species (pairs 19 and 22), and a large block in the B chromosome, while 5S rDNA signals were detected in the first pair of subtelocentric chromosomes in both species, moreover in M. maculatus an additional labeled pair 4 was observed. Mapping of the Rex1, Rex3, and Rex6 retrotransposable elements in the genomes of M. lippincottianus and M. maculatus indicated that they were dispersed throughout nearly all the chromosomes of the complement, except for the B chromosome of M. lippincottianus.


Assuntos
Caraciformes/genética , Cromossomos/genética , Animais , Bandeamento Cromossômico , Cromossomos/ultraestrutura , DNA Ribossômico/genética , Feminino , Heterocromatina/genética , Heterocromatina/ultraestrutura , Hibridização in Situ Fluorescente , Cariótipo , Masculino , Retroelementos/genética , Caracteres Sexuais , Especificidade da Espécie
8.
BMC Cancer ; 19(1): 412, 2019 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-31046733

RESUMO

BACKGROUND: The SK-PN-DW cell line was established in 1979 and is commercially available. Despite the use of this cell line as an in vitro model for functional and therapeutic studies of malignant primitive neuroectodermal tumor (PNET), there is a lack of complete information about the genetic alterations that are present at the cytogenetic level. Thus, the current study aimed to characterize the cytogenetic profile of this cell line. METHODS: Routine G-banded chromosome analysis, fluorescence in situ hybridization, and oligonucleotide array comparative genomic hybridization assays were performed to characterize the chromosomal changes in this cell line. RESULTS: The G-banded karyotype analysis showed that the number of chromosomes in this cell line ranged between 36 and 41. Importantly, all cells displayed a loss of chromosomes Y, 11, 13, and 18. However, some cells showed an additional loss of chromosome 10. Additionally, the observed structural changes indicated: a) unbalanced translocation between chromosomes 1 and 7; b) translocation between chromosomes 11 and 22 at breakpoints 11q24 and 22q12, which is a classical translocation that is associated with Ewing sarcoma; c) a derivative chromosome due to a whole arm translocation between chromosomes 16 and 17 at likely breakpoints 16p10 and 17q10; and d) possible rearrangement in the short arm of chromosome 18. Moreover, a variable number of double minutes were also observed in each metaphase cell. Furthermore, the microarray assay results not only demonstrated genomic-wide chromosomal imbalance in this cell line and precisely placed chromosomal breakpoints on unbalanced, rearranged chromosomes, but also revealed information about subtle chromosomal changes and the chromosomal origin of double minutes. Finally, the fluorescence in situ hybridization assay confirmed the findings of the routine cytogenetic analysis and microarrays. CONCLUSION: The accurate determination of the cytogenetic profile of the SK-PN-DW cell line is helpful in enabling the research community to utilize this cell line for future identity and comparability studies, in addition to demonstrating the utility of the complete cytogenetic profile, as a public resource.


Assuntos
Neoplasias Encefálicas/genética , Análise Citogenética/métodos , Tumores Neuroectodérmicos Primitivos/genética , Linhagem Celular Tumoral , Bandeamento Cromossômico , Deleção Cromossômica , Hibridização Genômica Comparativa , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Translocação Genética
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(6): 543-546, 2019 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-31055801

RESUMO

OBJECTIVE: To explore the genetic basis for a fetus featuring growth restriction and validate the effectiveness of a novel noninvasive prenatal testing (NIPT) technique for the detection of chromosomal microdeletions. METHODS: Next-generation sequencing(NGS) and fluorescence in situ hybridization(FISH) were used to analyze the DNA of the fetus. Conventional G-banding was used to analyze the karyotypes of the fetus and its parents. High-throughput sequencing was used to analyze free fetal DNA. RESULTS: NGS analysis has revealed a 4.88 Mb deletion at 15q11.2-q13.1 region in the fetus, which has a 99% overlap with the critical region of Prader-Willi syndrome (Type 2) and Angelman syndrome (Type 2) and encompassed critical genes including SNRPN and UBE3A. NIPT also revealed a 4.6 Mb deletion at 15q12, which was consistent with the results of fetal cord blood and amniotic DNA testing. FISH assay has confirmed the result of NGS. By karyotying, all subjects showed a normal karyotypes at a level of 320~400 bands. CONCLUSION: It is quite necessary to carry out genetic testing on fetuses showing growth restriction. NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate for the diagnosis of Prader-Willi/Angelman syndrome.


Assuntos
Síndrome de Angelman , Síndrome de Prader-Willi , Bandeamento Cromossômico , Cromossomos Humanos Par 15 , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Gravidez
10.
Rinsho Shinkeigaku ; 59(5): 253-257, 2019 May 28.
Artigo em Japonês | MEDLINE | ID: mdl-31061299

RESUMO

A 69-year-old man was admitted because of subacute development of lower limb weakness from one month ago. He showed central obesity, gynecomastia, dorsal fat pad ("buffalo hump"), and proximal muscle weakness in the lower extremities (manual muscle test 4). Needle EMG, muscle MRI and labolatry screening including CPK were negative for neuromuscular diseases, except for the hypogenitalism accidentally detected in MRI. Although blood corticol was in normal range, the levels of serum ACTH and 24-hour urinary free cortisol excretion were high, and the dexamethasone suppression tests were positive. Brain MRI showed a small pituitary mass with gadolinium enhancement, and ACTH measurement from petrosal sinus sampling after CRH stimulation lead to the diagnosis of definite Cushing disease. Moreover, he also showed low testosterone and elevated LH and FSH. Chromosome banding revealed 47 XXY in 22 in 30 cells, leading to the diagnosis of mosaic Klinefelter syndrome. The supplementation with testosterone was partially effective for his weakness. The surgical resection of pituitary microadenoma resulted in the full recovery. Either Klinefelter syndrome or mild Cushing disease alone was insufficient as a cause of the muscle weakness in this patient. It is plausible that the mild elevation of cortisol accompanied by the lack of tesstelone may underlie the weakness, probably linked to impaired balance between muscle anabolism and catabolism.


Assuntos
Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Doenças Musculares/etiologia , Hipersecreção Hipofisária de ACTH/complicações , Hipersecreção Hipofisária de ACTH/diagnóstico , Doença Aguda , Adenoma/complicações , Adenoma/cirurgia , Hormônio Adrenocorticotrópico/sangue , Idoso , Biomarcadores/sangue , Biomarcadores/urina , Bandeamento Cromossômico , Hormônio Foliculoestimulante/sangue , Humanos , Hidrocortisona/urina , Hormônio Luteinizante/sangue , Imagem por Ressonância Magnética , Masculino , Debilidade Muscular/etiologia , Doenças Musculares/diagnóstico , Doenças Musculares/terapia , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/cirurgia , Testosterona/administração & dosagem , Testosterona/deficiência , Resultado do Tratamento
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(5): 488-490, 2019 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-31030440

RESUMO

OBJECTIVE: To use single nucleotide polymorphism microarray (SNP array) to screen whole genome copy number variations (CNVs) in a fetus with multiple malformation. METHODS: Amniotic fluid sample was subjected to routine G banding chromosomal analysis and CNVs detection, and its parents were tested in order to determine the origin of fetal chromosomal aberration. RESULTS: SNP array has detected a large fragment repetition spanning approximately 16 Mb in the 17q24.2-q25.3 region in the fetus. The karyotype of amniotic fluid was 46,XY,der(21),t(17;21)(q23;p12). The karyotype of the mother was normal, while its father has a karyotype of 46,XY,t(17;21)(q23;p12). CONCLUSION: The large repetition at 17q24.2-q25.3 probably underlies the multiple fetal malformation. Abnormal fetuses carrying apparently balanced chromosomal translocations may harbor CNVs outside the breakpoint regions involved in the rearrangements. SNP array has provided a useful supplement for the conventional G banding karyotyping analysis.


Assuntos
Variações do Número de Cópias de DNA , Trissomia , Bandeamento Cromossômico , Cromossomos Humanos , Feto , Humanos , Cariotipagem , Análise em Microsséries , Diagnóstico Pré-Natal
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(5): 495-497, 2019 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-31030442

RESUMO

OBJECTIVE: To carry out genetic diagnosis for a pregnant woman and her fetus. METHODS: Chromosome G-banding and microarray analysis were used to analyze the woman featuring dysmorphism and recognition defect and her fetus featuring developmental retardation. RESULTS: The karyotype of the woman was normal, but chromosome microarray analysis showed that she has carried a 1423 kb deletion at 7q11.23 region. Her fetus has carried a 1530 kb deletion at the same region. Both individuals were diagnosed as Williams-Beuren syndrome. CONCLUSION: Familiarity with its clinical features and proper selection of genetic testing methods are crucial for the diagnosis of Williams-Beuren syndrome.


Assuntos
Síndrome de Williams , Criança , Bandeamento Cromossômico , Cromossomos Humanos Par 7 , Feminino , Testes Genéticos , Humanos , Cariotipagem , Gravidez , Diagnóstico Pré-Natal , Síndrome de Williams/diagnóstico
13.
Cytogenet Genome Res ; 157(3): 153-157, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30933946

RESUMO

Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly, cutaneous spots, facial asymmetry, prominent ears, hypotonia, retinopathy, and sensorineural hearing loss. A 2-year-old female presented with neuropsychomotor developmental delay, prominent forehead, dolichocephaly, patchy skin pigmentation, and unexpected overgrowth at birth. Cytogenetic analysis of her peripheral blood showed normal results, suggesting the presence of a chromosomal alteration in other tissues. Further studies using G-banding and FISH performed on fibroblasts from both hyper- and hypopigmented regions identified a 47,XX,+12/46,XX karyotype. To the best of our knowledge, no patients with mosaic trisomy 12 associated with overgrowth have been reported to date. Congenital overgrowth and neonatal overgrowth have been frequently linked to Pallister-Killian syndrome (PKS; OMIM 601803). This case suggests the possibility of an association of genes present in the 12p region with fetal overgrowth, considering that chromosomal duplications could lead to an increase in the production of aberrant transcripts and disturbing gene dosage effects. This case highlights the importance of cytogenetic analysis in different tissues to provide relevant information to the specific genotype/phenotype correlation.


Assuntos
Cromossomos Humanos Par 12/genética , Fibroblastos/citologia , Trissomia/diagnóstico , Linhagem Celular , Pré-Escolar , Bandeamento Cromossômico , Transtornos Cromossômicos , Feminino , Fibroblastos/química , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Mosaicismo
14.
Cytogenet Genome Res ; 157(3): 158-165, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30974432

RESUMO

Amongst 15 bird species, representative of 7 orders, recurrent breakages evocating the presence of fragile sites were detected in the chromosomes of the 5 species belonging to Passeriformes. These breaks appeared when 5-bromodeoxyuridine (BrdU) was added to the cell culture medium at a dose inefficient for inducing chromosome structure alterations in other birds and mammals. They involved, similarly in male and female, 3 loci on the Z chromosome of 3 Turdus species (Turdidae). Labeling by BrdU antibody confirmed the correlation between BrdU incorporation into DNA and breakage, especially around and in the sites of breakage. Thus, 3 BrdU-sensitive fragile sites were present in the Z chromosomes of these birds. Three fragile sites were also detected at different locations in the Z chromosomes of the European robin (Erithacus rubecula, Muscicapidae), suggesting that a structural rearrangement occurred during the evolution of Turdidae and Muscicapidae. Chromosome banding confirmed this interpretation. Finally, in the more distantly related species Parus major (Paridae), the almost acrocentric Z chromosome displayed a single BrdU-sensitive fragile site in its short arm, and the W appeared to be pulverized by BrdU incorporation. Although it cannot be excluded that the BrdU-sensitive fragile sites may be involved in rearrangements, their conservation in many species, and possibly all Passeriformes, provides evidence that they do not constitute a pejorative character during evolution.


Assuntos
Bromodesoxiuridina/farmacologia , Cromossomos/efeitos dos fármacos , Passeriformes/genética , Animais , Composição de Bases , Bandeamento Cromossômico , Sítios Frágeis do Cromossomo , Cromossomos/genética , Evolução Molecular , Feminino , Masculino , Passeriformes/classificação
15.
Ann Hematol ; 98(6): 1413-1420, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30830246

RESUMO

Acute promyelocytic leukemia (APL) is generally characterized by t(15;17)(q24;q21). In some cases, the classic translocation cannot be identified by conventional methods, since the PML-RARA fusion protein results from complex, variant, or cryptic translocation. The diagnostic algorithm of APL starts with screening methods, such as flow cytometry (FC), followed by fluorescence in situ hybridization or polymerase chain reaction to confirm the diagnosis. Our aim was to develop a novel protocol for analyzing APL samples based on multidimensional dot-plots that can provide comprehensive information about several markers at the same time. The protocol included four optimized multidimensional dot-plots, which were tested by retrospective reanalysis of FC results in APL (n = 8) and non-APL (n = 12) acute myeloid leukemia (AML) cases. After predicting the potential position of hypergranular- and microgranular-type aberrant promyelocytes, the percentages of blast populations were examined within the gates in all AML cases. The percentage of blasts in each predefined gate was well above the cut-off value (95%) in APL cases in all tubes. In non-APL AML cases, the percentage of blasts in the same gates never reached the cut-off value in all investigated tubes, and even when it did in a single tube, the pattern was markedly different from that observed in APL cases. In conclusion, multidimensional dot-plots can be used for screening APL even in cryptic APL cases, although reproducibility across several laboratories would require standardization of antibodies and fluorochromes. This easy-to-use and quick method can support the diagnosis of APL and the prompt initiation of the appropriate treatment.


Assuntos
Apresentação de Dados , Detecção Precoce de Câncer/métodos , Citometria de Fluxo/métodos , Imunofenotipagem/métodos , Leucemia Promielocítica Aguda/diagnóstico , Adulto , Idoso , Antígenos CD/análise , Antígenos de Neoplasias/análise , Biomarcadores Tumorais/análise , Medula Óssea/patologia , Bandeamento Cromossômico , Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 15/ultraestrutura , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 17/ultraestrutura , Fator XIII/análise , Feminino , Citometria de Fluxo/instrumentação , Corantes Fluorescentes , Humanos , Imunofenotipagem/instrumentação , Hibridização in Situ Fluorescente , Leucemia Promielocítica Aguda/sangue , Leucemia Promielocítica Aguda/genética , Masculino , Pessoa de Meia-Idade , Células-Tronco Neoplásicas/patologia , Proteínas de Fusão Oncogênica/genética , Estudos Retrospectivos , Translocação Genética
16.
BMC Evol Biol ; 19(1): 73, 2019 03 08.
Artigo em Inglês | MEDLINE | ID: mdl-30849933

RESUMO

BACKGROUND: Synbranchidae or swamp eels are fishes belonging to the order Synbranchiformes that occur in both freshwater and occasionally in brackish. They are worldwide distributed in tropical and subtropical rivers of four different continents. A large degree of chromosomal variation has been found in this family, mainly through the use of conventional cytogenetic investigations. Inside this group, a still almost unexplored species under the cytogenetic point of view is the Asian swamp eel Monopterus albus, a widely distributed species throughout Asia. Here, we tested the hypothesis of chromosomal speciation, where a case of sympatric speciation may occur as the primary consequence of chromosomal rearrangements. We performed a comparative chromosomal analysis of M. albus from 22 different localities in Thailand, using distinct staining methods (C-banding, Ag-NO3, and Chromomycin A3), and FISH with repetitive DNA probes (5S rDNA, 18S rDNA, Rex1 element and microsatellite repeats). RESULTS: This approach evidenced two contrasting karyotypes (named karyomorphs A and B) that varied concerning their 2n and repetitive DNAs distribution, where chromosomal fusions and pericentric inversions were involved in such differentiation. While the karyomorph A has 2n = 24 chromosomes, the karyomorph B has only 2n = 18, both with NF = 24. In addition, karyomorph A contains only acrocentric chromosomes, while karyomorph B contains three unique metacentric pairs. These features highlight that M. albus has already gone through a significant genomic divergence, and may include at least two cryptic species. CONCLUSIONS: This marked chromosomal differentiation, likely linked to the lifestyle of these fishes, point to the occurrence of a chromosomal speciation scenario, in which fusions and inversions had a prominent role. This highlights the biodiversity of M. albus and justifies its taxonomic revision, since this nominal species may constitute a species complex.


Assuntos
Evolução Biológica , Cromossomos/genética , Especiação Genética , Variação Genética , Cariótipo , Smegmamorpha/genética , Animais , Bandeamento Cromossômico , Mapeamento Cromossômico , Geografia , Metáfase/genética , Repetições de Microssatélites/genética , Tailândia
17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(2): 112-115, 2019 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-30703225

RESUMO

OBJECTIVE: To explore the clinical and laboratory characteristics of 5 patients with myeloid leukemia and t(12;22)(p13;q12). METHODS: Bone marrow cells were cultured for 24 h and analyzed by standard R-banding. Rearrangement of the MN1 gene was detected by fluorescence in situ hybridization (FISH) using dual color break-apart MN1 probes. MN1-ETV6 and ETV6-MN1 fusion genes were detected by reverse transcription polymerase chain reaction (RT-PCR). And the products were subjected to direct sequencing. RESULTS: Among the 5 patients, 2 had AML-M0, 2 had AML-M4, and 1 had CMM0L at the initial diagnosis. t(12;22)(p13;q12) was the primary abnormality among all patients. Rearrangements of MN1 gene were detected by FISH in all patients. MN1-ETV6 and ETV6-MN1 fusion genes were detected respectively in 4 and 3 patients. CONCLUSION: t(12;22)(p13;q12) is a rare but recurrent chromosomal abnormality in myeloid leukemia, and is related to poor prognosis. allo-SCT is valuable for patients with t(12;22)(p13;q12).


Assuntos
Cromossomos Humanos Par 12 , Cromossomos Humanos Par 22 , Leucemia Mieloide , Translocação Genética , Bandeamento Cromossômico , Citogenética , Humanos , Hibridização in Situ Fluorescente , Leucemia Mieloide/genética , Proteínas de Fusão Oncogênica
19.
J Assist Reprod Genet ; 36(4): 769-775, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30675680

RESUMO

PURPOSE: Male carriers of an X-autosome translocation are generally infertile, regardless of the position of the breakpoint on the X chromosome while the pathogenicity of Xp22.3 subtelomeric duplications is under debate. To shed light into this controversy, we present a rare case, of an azoospermic male with no other significant clinical findings, in whom classical cytogenetics revealed additional unbalanced chromosomal material, at the telomere of the long arm of one homolog of chromosome 9. METHODS: In peripheral blood specimens of the index case and his parents, we performed GBanding, Inverted-DAPI Banding, AgNOR staining, Telomere specific Fluorescence in Situ Hybridization (FISH), Molecular karyotyping by Multi-color FISH, whole genome SNP microarrays, sub-telomeric MLPA, and transcription analysis of the expression of KAL1 gene by RT-PCR. RESULTS: Multi-color FISH revealed an unbalanced translocation involving the short arm of chromosome X. SNP microarray analysis combined to classical cytogenetics and MLPA demonstrated a de novo 8.796 Mb duplication of Xp22.31-p22.33. Compared to three control specimens, the patient presented significantly elevated expression levels of KAL1 mRNA in peripheral blood, suggesting transcriptional functionality of the duplicated segment. CONCLUSIONS: The duplicated segment contains the pseudo-autosomal region PAR1 and more than 30 genes including SHOX, ARSE, STS, KAL1, and FAM9A and is not listed as polymorphic. Our data advocate that duplications of the Xp22.3 region may not be associated with a clinical consequence.


Assuntos
Cromossomos Humanos Par 9/genética , Cromossomos Humanos X/genética , Infertilidade Masculina/genética , Translocação Genética/genética , Adulto , Criança , Bandeamento Cromossômico/métodos , Duplicação Cromossômica/genética , Proteínas da Matriz Extracelular/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Infertilidade Masculina/patologia , Cariotipagem , Masculino , Proteínas do Tecido Nervoso/genética , Polimorfismo de Nucleotídeo Único/genética , Gravidez , Telômero/genética
20.
Leukemia ; 33(8): 1851-1867, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30696948

RESUMO

Cytogenomic investigations of haematological neoplasms, including chromosome banding analysis, fluorescence in situ hybridisation (FISH) and microarray analyses have become increasingly important in the clinical management of patients with haematological neoplasms. The widespread implementation of these techniques in genetic diagnostics has highlighted the need for guidance on the essential criteria to follow when providing cytogenomic testing, regardless of choice of methodology. These recommendations provide an updated, practical and easily available document that will assist laboratories in the choice of testing and methodology enabling them to operate within acceptable standards and maintain a quality service.


Assuntos
Neoplasias Hematológicas/genética , Bandeamento Cromossômico , Humanos , Hibridização in Situ Fluorescente , Leucemia Mielogênica Crônica BCR-ABL Positiva , Leucemia Mieloide Aguda/genética , Linfoma/genética , Análise em Microsséries , Mieloma Múltiplo/genética , Síndromes Mielodisplásicas
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA