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Neotrop. ichthyol ; 17(3): e190069, 2019. graf
Artigo em Inglês | LILACS (Américas), VETINDEX | ID: biblio-1040664


Gymnorhamphichthys britskii is a Neotropical electric fish of family Rhamphichthyidae described from the Paraná-Paraguay system. This study reports the first karyotypic description of G. britskii collected from the upper Paraná river basin, which presented 2n=38 chromosomes, karyotype composed of 14 metacentric, 8 submetacentric, 2 subtelocentric and 14 acrocentric chromosomes, and fundamental number as 62 for both sexes. Heteromorphic sex chromosomes were absent. A single pair of nucleolar organizing regions (NORs) was detected in the submetacentric chromosome pair number 9 by silver staining and confirmed by the 18S rDNA probe. The 5S rDNA was located in a single chromosome pair. Heterochromatic regions were clearly observed in the short arms of the NOR-bearing chromosome pair and in the telomeric positions of most acrocentric chromosomes. Besides the present data are valuable to help in understanding karyotypic evolution in Rhamphichthyidae, data from NORs confirmed the tendency of this family in presenting simple NORs sites, similar to the other Gymnotiformes clades. Yet, the presence of a large heterochromatic block in the NOR-bearing chromosome can be used as cytogenetic markers for G. britskii, and that centric fusions appear to be an important mechanism in the karyotype evolution and differentiation among Gymnotiformes species.(AU)

Gymnorhamphichthys britskii é um peixe neotropical da família Rhamphichthyidae descrita no sistema Paraná-Paraguai. Este estudo relata a primeira descrição cariotípica de G. britskii coletado na bacia do alto rio Paraná, que apresentou 2n = 38 cromossomos, cariótipo composto por 14 metacêntricos, 8 submetacêntricos, 2 subtelocêntricos e 14 acrocêntricos, e número fundamental 62 para ambos sexos. Cromossomos sexuais heteromórficos estavam ausentes. Um único par de regiões organizadoras de nucléolos (RONs) foi detectado no par de cromossomos submetacêntricos número 9 por coloração com prata e confirmado pela sonda DNAr 18S. O DNAr 5S foi localizado em um único par cromossômico. Regiões heterocromáticas foram claramente observadas nos braços curtos do par de cromossomos que carrega a RON e nas posições teloméricas da maioria dos cromossomos acrocêntricos. Além dos dados presentes serem valiosos para auxiliar na compreensão da evolução cariotípica em Rhamphichthyidae, dados de RONs confirmaram a tendência desta família em apresentar sítios simples de RONs, semelhantes aos demais clados de Gymnotiformes. No entanto, a presença de um grande bloco heterocromático no cromossomo portador da RON, pode ser usado como marcador citogenético para G. britskii e as fusões cêntricas parecem ser um mecanismo importante na evolução e diferenciação cariotípica entre as espécies de Gymnotiformes.(AU)

Análise Citogenética/veterinária , Gimnotiformes/genética , Diploide , Cariótipo
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771971


OBJECTIVE@#To characterize cytogenetic changes and prognosis of patients with acute myeloid leukemia (AML) from different age groups.@*METHODS@#The karyotypes of 515 AML patients were analyzed by using short-term culture of bone marrow cells and R-banding technique. Combined with FAB typing and genetic testing, cytogenetic changes and prognosis of different age groups were analyzed.@*RESULTS@#The abnormal cloning rate was 54.6% among the 515 patients. The abnormal cloning rate and adverse risk karyotype proportion of those with myeloproliferative syndromes (MDS) and secondary AML were higher than those with de novo AML (P = 0.027; P<0.01). A significant difference was found in the number of structural abnormalities and proportion of favorable risk karyotypes among different age groups (P = 0.026; P = 0.004). And there was also a significant difference in the abnormal cloning rate between different FAB types (P<0.01). In those with non-acute promyelocytic leukemia (APL), the expression level of WT1 gene seemed to affect the prognosis. The survival rate of patients with karyotypes of adverse risk was lower than those with karyotypes of favorable risk (P = 0.015). The survival rate of the ≥60-year-old group was lower than the ≤30-year-old and 31 to 59-year-old groups (P<0.01, P<0.01).@*CONCLUSION@#The karyotypes of AML patients have different age distribution characteristics. The survival rate of ≥60-years-old group and karyotype of poor prognosis is low. Patients with MDS with secondary AML have a poor prognosis.

Adulto , Aberrações Cromossômicas , Análise Citogenética , Citogenética , Humanos , Cariótipo , Cariotipagem , Leucemia Mieloide Aguda , Pessoa de Meia-Idade , Síndromes Mielodisplásicas , Prognóstico
Annals of Dermatology ; : 576-580, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-762368


Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.

Alopecia , Aniridia , Aberrações Cromossômicas , Cóccix , Análise Citogenética , Extremidades , Feminino , Humanos , Hipopigmentação , Lactente , Cariótipo , Mosaicismo , Síndromes Neurocutâneas , Transtornos da Pigmentação , Couro Cabeludo , Sindactilia , Dente
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-775788


OBJECTIVE@#To explore cytogenetic characteristics and fertility of carriers of complex chromosome rearrangements (CCR) from Henan region.@*METHODS@#G-banded karyotyping analysis was carried out on peripheral blood lymphocytes derived from 160 601 patients with reproductive abnormalities. Relevant literature was retrieved from domestic and overseas databases. Cytogenetic characteristics and clinical data of CCR carriers were analyzed.@*RESULTS@#Twenty-seven CCR carriers were identified among the 160 601 patients. In addition, 6 cases were identified from the database research. Among the 33 CCR carriers, there were 17 three- and four-way exchange cases (51.5%), 10 double two-way exchange cases (30.3%), and 6 unusual CCRs (18.2%). Infertility was noted in 14 (42.4%) of the CCR carries. A total of 38 pregnancies were achieved in the remaining 19 cases (57.6%), among which spontaneous abortions or embryonic losses have occurred in 89.5% (34/38), multiple congenital abnormalities have occurred in 7.9% (3/38), while phenotypically normal offspring have occurred in 2.6% (1/38). Chromosomes 1, 11, 2, 4, 5 and 12 were more frequently involved, with their breakpoints occurred more than 3 times at 1p22, 11q23, 12p13 and 22q11.@*CONCLUSION@#CCR carriers are at a higher risk for abnormal pregnancies. Even for those with normal pregnancy, prenatal diagnosis should be provided. Chromosomes and their breakpoints involved in CCR may affect the fertility of CCR carriers. Analyzing the types of CCR and involved chromosomes and breakpoints can facilitate genetic counseling for CCR carriers.

Aberrações Cromossômicas , Análise Citogenética , Feminino , Fertilidade , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Gravidez , Translocação Genética
Laboratory Medicine Online ; : 189-193, 2019.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-760494


A variety of clonal cytogenetic abnormalities have been reported in aggressive natural killer (NK)-cell lymphoma and leukemia. Recent chromosomal microarray studies have shown both gain and loss of 1q and loss of 7p as recurrent abnormalities in aggressive NK-cell leukemia. Here, we report a case of aggressive NK-cell leukemia with complex chromosomal gains and losses, as confirmed by chromosomal microarray analysis. The patient showed an aggressive clinical course, which was complicated by hemophagocytic lymphohistiocytosis. Conventional cytogenetic analysis revealed trisomy 3 and 1q gain only. However, chromosomal microarray analysis detected an additional gain of 1q21.1–q24.2 and a loss of 1q24.2–q31.3. These abnormal lesions might play a role in the pathogenesis of aggressive NK-cell leukemia by inactivating tumor suppressor genes or by activating oncogenes. These results suggest that chromosomal microarray analysis may be used to provide further genetic information for patients with hematological malignancies, including aggressive NK-cell leukemia.

Aberrações Cromossômicas , Análise Citogenética , Genes Supressores de Tumor , Neoplasias Hematológicas , Humanos , Leucemia , Linfo-Histiocitose Hemofagocítica , Linfoma , Análise em Microsséries , Oncogenes , Trissomia
Mem. Inst. Invest. Cienc. Salud (Impr.) ; 16(2): 107-112, Ago. 2018. ilus
Artigo em Espanhol | LILACS (Américas), BDNPAR | ID: biblio-998082


La citogenética es el estudio de los cromosomas tanto en número como en estructura. En 1882 Flemming publica las primeras primeras ilustraciones de los cromosomas humanos a partir de observaciones al microscopio y recién en el año 1953, Tjio y Levan determinaron el número real de cromosomas humanos por célula diploide (2n=46). El propósito de este trabajo es presentar el valor, uso actual e importancia de los estudios citogenéticos en aquellos casos en que el profesional de salud se enfrente a un paciente con una probable enfermedad de causa genética o síndrome dismórfico, además de exponer algunas experiencias de un laboratorio de Citogenética en el Paraguay, donde se realiza el estudio cromosómico. Aún con el advenimiento de la Biología Molecular y de la Citogenética Molecular, la citogenética convencional sigue siendo una herramienta de gran importancia, ya que permite realizar el diagnóstico de una enfermedad genética en pacientes con sospecha clínica de ser portadores de anomalías cromosómicas, y por tanto asesorar a las familias respecto de dicha enfermedad, proveer un pronóstico, riesgo de recurrencia y en casos que se requiera, un tratamiento(AU)

Cytogenetics is the study of chromosomes both in number and structure. The first publications about human cytogenetics were provided towards the end of the 19th century with the publication of Flemming in 1882 of the first figures of human chromosomes from observations under the microscope and only in 1953, Tjio and Levan determined the actual number of human chromosomes per diploid cell (2n = 46). The purpose of this paper is to present the value, current use and importance of cytogenetic studies in those cases in which the health professional faces a patient with a probable disease of genetic causes or dysmorphic syndrome, in addition to exposing some experiences from a Cytogenetics laboratory in Paraguay, where chromosomal study is carried out. Even with the arrival of Molecular Biology and Molecular Cytogenetics, conventional cytogenetics is a tool with a great importance, which allows the genetic disease diagnosis in patients with clinical suspicion of being carriers of chromosomal abnormalities, allowing to advice families about the disease, as well as to provide a prognosis, risk of recurrence and, in cases that requires it, a treatment(AU)

Humanos , Análise Citogenética , Citogenética/tendências , Doenças Genéticas Inatas/diagnóstico , Cromossomos Humanos/genética , Cariótipo , Metáfase
Rev. Bras. Saúde Mater. Infant. (Online) ; 18(2): 265-276, Apr.-June 2018. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-1013085


Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors "chromosomal abnormalities and abortions and prevalence". After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.

Resumo Objetivos: descrever a prevalência e os tipos de anormalidades cromossômicas em casais com aborto recorrente e em produtos de concepção. Métodos: foram realizadas buscas eletrônicas nas bases de dados PubMed/Medline e no Portal Regional da Biblioteca Virtual em Saúde/BVS usando os descritores "chromosomal abnormalities and abortions and prevalence". Após a aplicação de critérios de inclusão e exclusão, 17 estudos foram selecionados. Resultados: 11 estudos foram realizados em casais com aborto recorrente e seis em produtos de concepção. Os principais resultados em casais com aborto recorrente foram: a frequência de anormalidades cromossômicas variou de 1,23% a 12% e houve predomínio de alterações cromossômicas estruturais (translocações recíprocas, seguidas por Robertsonianas). Nos produtos de concepção, os resultados observados foram: a frequência de anormalidade cromossômica foi acima de 50% em aproximadamente 70% dos estudos; houve predomínio de alterações cromossômicas numéricas (trissomia - cromossomos 16, 18, 21 e 22, seguido de poliploidia e monossomia X). Conclusões: em resumo, as alterações citogenéticas representam uma importante causa de perdas gestacionais e sua detecção auxilia no aconselhamento genético do casal. Portanto, o valor do conhecimento sobre a prevalência de anormalidades citogenéticas em amostras de aborto espontâneo é indiscutível, uma vez que permite o aconselhamento genético adequado ao casal.

Humanos , Feminino , Gravidez , Aborto Habitual/etiologia , Aborto Habitual/epidemiologia , Aberrações Cromossômicas , Transtornos Cromossômicos , Fertilização , Cariotipagem , Translocação Genética , Análise Citogenética , Aconselhamento Genético
An. acad. bras. ciênc ; 90(1): 41-47, Mar. 2018. graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-886917


ABSTRACT Chromosome-specific probes have been widely used in molecular cytogenetics, being obtained with different methods. In this study, a reproducible protocol for construction of chromosome-specific probes is proposed which associates in situ amplification (PRINS), micromanipulation and degenerate oligonucleotide-primed PCR (DOP-PCR). Human lymphocyte cultures were used to obtain metaphases from male and female individuals. The chromosomes were amplified via PRINS, and subcentromeric fragments of the X chromosome were microdissected using microneedles coupled to a phase contrast microscope. The fragments were amplified by DOP-PCR and labeled with tetramethyl-rhodamine-5-dUTP. The probes were used in fluorescent in situ hybridization (FISH) procedure to highlight these specific regions in the metaphases. The results show one fluorescent red spot in male and two in female X chromosomes and interphase nuclei.

Humanos , Reação em Cadeia da Polimerase/métodos , Primers do DNA/genética , Marcação in Situ com Primers/métodos , Análise Citogenética/métodos , Sondas de DNA/genética , Reprodutibilidade dos Testes , Hibridização in Situ Fluorescente/métodos , Cromossomos Humanos X/genética , Microdissecção/métodos
Kosin Medical Journal ; : 117-121, 2018.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-715141


A premature infant with gestational age 36⁺⁴ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and asymmetric face with micrognathia and hypertelorism were detected. Therefore, cytogenetic analysis was performed, and his karyotype was 46, XY, del(5) (p14p15.33). Pontine hypoplasia was detected on cranial magnetic resonance imaging (MRI). Therefore, karyotyping and cranial MRI should be performed in case of preterm infants with suspicion of Cri-du-chat syndrome (CdCS).

Síndrome do Miado do Gato , Análise Citogenética , Idade Gestacional , Humanos , Hipertelorismo , Recém-Nascido , Recém-Nascido Prematuro , Cariótipo , Cariotipagem , Imagem por Ressonância Magnética , Micrognatismo , Ponte , Respiração , Ventilação
Laboratory Medicine Online ; : 148-155, 2018.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-717396


BACKGROUND: Chromosomal abnormalities are confirmed as one of the frequent causes of male infertility. The microdeletion of the azoospermia factor (AZF) region in the Y chromosome was discovered as another frequent genetic cause associated with male infertility. The aim of this study was to evaluate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in Korean infertile men. METHODS: A total of 846 infertile men with azoospermia and severe oligozoospermia were included for genetic screening. Cytogenetic analyses using G-banding and screening for Y chromosome microdeletions by multiplex PCR for AZF genes were performed. RESULTS: Chromosomal abnormalities were detected in 112 infertile men (13.2%). Of these, Klinefelter's syndrome was the most common (55.4%, 62/112), followed by balanced translocation including translocation between sex chromosome and autosome (14.3%), Yq deletion (13.4%), X/XY mosaicism with Yq deletion (12.5%), and XX male (4.5%). The overall prevalence of Y chromosome microdeletions was 9.2% (78/846). Most microdeletions were in the AZFc region (51.3%) with a low incidence in AZFa (7.7 %) and AZFb (6.4 %). Combined deletions involving the AZFbc and AZFabc regions were detected in 26.9 % and 7.7 % of men, respectively. Among the infertile men with Y chromosome microdeletions, the incidence of chromosomal abnormality was 25.6% (20/78). CONCLUSIONS: There was a high incidence (20.1%) of chromosomal abnormalities and Y chromosome microdeletions in Korean infertile men. These findings strongly suggest that genetic screening for chromosomal abnormalities and Y chromosome microdeletions should be performed, and genetic counseling should be provided before starting assisted reproductive techniques.

Azoospermia , Aberrações Cromossômicas , Análise Citogenética , Aconselhamento Genético , Testes Genéticos , Humanos , Incidência , Infertilidade Masculina , Síndrome de Klinefelter , Masculino , Programas de Rastreamento , Mosaicismo , Reação em Cadeia da Polimerase Multiplex , Oligospermia , Prevalência , Técnicas de Reprodução Assistida , Cromossomos Sexuais , Cromossomo Y
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-775821


OBJECTIVE@#To explore the genetic cause for a child featuring growth and mental retardation.@*METHODS@#Following conventional karyotyping analysis of the trio family, next generation sequencing (NGS) was carried out to explore the origin of the supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) was used to confirm the result.@*RESULTS@#The karyotypes of both parents were normal, while the proband was found to be 47,XX,+mar. NGS showed that the supernumerary marker has originated from chromosome 9p13.1p24.3 with a size of 39.77 Mb. FISH has confirmed the above finding.@*CONCLUSION@#The 9p13.1-p24.3 trisomy probably underlies the abnormal phenotypes of the child. Cytogenetic analysis combined with NGS and FISH can provide accurate diagnosis for such disorders.

Criança , Cromossomos Humanos Par 9 , Genética , Análise Citogenética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Trissomia
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-714529


BACKGROUND: The identification of genetic abnormalities in patients with multiple myeloma (MM) has gained emphasis because genetics-based risk stratification significantly affects overall survival (OS). We investigated genetic abnormalities using conventional cytogenetics and FISH and analyzed the prognostic significance of the identified additional abnormalities in MM. METHODS: In total, 267 bone marrow samples were collected from February 2006 to November 2013 from patients who were newly diagnosed as having MM in a tertiary-care hospital in Korea. The clinical and laboratory data were retrospectively obtained. Cox proportional hazard regression was used to examine the relationship between clinical/genetic factors and survival outcome, using univariate and multivariate models. RESULTS: Using conventional cytogenetic analysis and FISH, 45% (120/267) and 69% (183/267) patients, respectively, were identified to harbor genetic abnormalities. In the univariate analysis, the following genetic variables were identified to affect OS: abnormal karyotype (P 65 years) (P=0.013) with an HR of 2.505 (95% CI, 1.218–5.151). CONCLUSIONS: Our findings highlight the importance of applying a comprehensive approach for detecting genetic abnormalities, which could be closely associated with the prognostic significance of MM.

Cariótipo Anormal , Aneuploidia , Medula Óssea , Análise Citogenética , Citogenética , Humanos , Coreia (Geográfico) , Mieloma Múltiplo , Análise Multivariada , Prognóstico , Estudos Retrospectivos
Blood Research ; : 276-280, 2018.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-718484


BACKGROUND: Chronic lymphocytic leukemia (CLL) exhibits profound heterogeneity in its clinical course. Its clinicohematological and cytogenetic features play a significant role in determining the clinical course and in predicting the treatment response and prognosis. In this context, 17p deletion is known to predict a poor prognosis, as these cases are refractory to conventional therapy. This study aimed to evaluate the clinicohematological characteristics, outcomes, and prognostic factors among CLL patients with and without del 17p in Pakistan. METHODS: This prospective observational study was conducted at the Department of Haematology, Armed Forces Institute of Pathology (Rawalpindi, Pakistan) between January 2013 and December 2017. Patients were diagnosed based on the International Workshop on Chronic Lymphocytic Leukaemia IWCLL criteria, their clinicohematological parameters were recorded, and cytogenetic analyses were performed. The time from diagnosis to treatment and the 2-year overall survival rate were also evaluated. RESULTS: We evaluated 130 CLL cases, including 24 patients (18.5%) with del 17p, who included 18 men (75%) and 6 women (25%). The median age was 68 years. Binet stage C was detected at the presentation in 16 patients (67%). Treatment was administered to 14 patients (70%) at a median interval of 11 months (range, 0–28 mo) after diagnosis. The overall response rate was 64.3%, the median event-free survival was 9 months (range, 1–23 mo), and the 2-year overall survival rate was 65%. CONCLUSION: Del 17p is relatively common in Pakistan, and patients harboring this deletion had poor treatment response and survival outcomes.

Braço , Estudos de Coortes , Análise Citogenética , Citogenética , Diagnóstico , Intervalo Livre de Doença , Educação , Feminino , Humanos , Hibridização in Situ Fluorescente , Leucemia Linfocítica Crônica de Células B , Masculino , Estudo Observacional , Paquistão , Patologia , Características da População , Prognóstico , Estudos Prospectivos , Taxa de Sobrevida
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-715431


PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. RESULTS: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. CONCLUSION: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.

Amniocentese , Amostra da Vilosidade Coriônica , Cordocentese , Análise Citogenética , Feminino , Feto , Aconselhamento Genético , Humanos , Mães , Pais , Gravidez , Diagnóstico Pré-Natal , Prognóstico , Translocação Genética , Ultrassonografia , Ultrassonografia Pré-Natal
Clinics ; 72(7): 400-404, July 2017. tab
Artigo em Inglês | LILACS (Américas) | ID: biblio-890711


OBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. METHOD: A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes. RESULTS: A total of 162 amniotic fluid samples analyzed using multiplex QF-PCR were compared with karyotyping analysis. The QF-PCR results were consistent with the results of cytogenetic analysis in 95.4% of all samples. CONCLUSION: QF-PCR was demonstrated to be efficient and reliable for prenatal aneuploidy screening. This study suggests that QF-PCR can be used as a rapid diagnostic method. However, rearrangements and some mosaic samples cannot be detected with this test; thus, those exceptions must undergo cytogenetic analysis.

Humanos , Feminino , Gravidez , Adolescente , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Diagnóstico Pré-Natal/métodos , Reação em Cadeia da Polimerase/métodos , Aneuploidia , Brasil , Estudos Prospectivos , Análise Citogenética , Fluorescência , Cariotipagem
Rev. cuba. hematol. inmunol. hemoter ; 33(1): 1-8, ene.-mar. 2017.
Artigo em Espanhol | LILACS (Américas) | ID: biblio-901069


La biología molecular (BM) es una ciencia que ha revolucionado el desarrollo científico en los últimos años. En el Instituto de Hematología e Inmunología (IHI) también ha evolucionado progresivamente conforme al avance tecnológico y adecuándose cada vez más al contexto científico internacional. Su historia se remonta al año 1966, con la creación del IHI y posteriormente del laboratorio de BM. En el año 2012, el departamento de BM y el laboratorio de citogenética, pasaron a formar parte de lo que hoy es el Centro de Tecnologías de Avanzada, un área con tecnología de punta que ha permitido actualizar la mayoría de las técnicas moleculares que se empleaban previamente, lo que garantiza mayor rapidez y confiabilidad de los resultados. Se introdujeron y perfeccionaron técnicas como la extracción y cuantificación de ácidos nucleicos, la electroforesis capilar y el FISH (del inglés: Fluorescence In Situ Hybridization) y se adquirieron modernas máquinas termocicladoras para la reacción en cadena de la polimerasa (PCR , siglas en inglés), materiales y reactivos. Con este esfuerzo mancomunado en estos 50 años, se han podido beneficiar hasta la fecha: 5 460 pacientes, estudiados en el laboratorio de BM, donde se determinan actualmente 10 marcadores moleculares, 12 estudios de FISH; además del cariotipo convencional y los estudios de quimerismo. Se ha alcanzado una media anual de 317 pacientes estudiados, en los últimos 5 años. Se cuenta con profesionales de alta calificación, lo que ha posibilitado liderar y colaborar en proyectos de investigación nacionales e internacionales, publicar innumerables artículos científicos, obtener premios relevantes y formar a los residentes de la especialidad de Hematología. Las perspectivas comprenden la incorporación de la PCR en tiempo real y la secuenciación para completar un nivel de diagnóstico a la altura de cualquier prestigioso centro internacional y así poder ofrecer un servicio de calidad a los pacientes(AU)

Molecular biology (MB) is a science that has revolutionized scientific development in recent years. It has also increasing progressively at the Institute of Hematology and Immunology (IHI) as adapting to technological advances and international scientific context. Its history dates back to 1966, with the IHI creation and subsequently the MB laboratory. Since then they have been many achievements in the field of diagnosis and research in Hematology. In 2012, the MB department with the cytogenetic laboratory was part of the Center for Advanced Technologies; an area with modern technology that has allowed change old studies by updated molecular techniques, ensuring greater speed and reliability of results. Techniques such as extraction and quantification of nucleic acids (NA), capillary electrophoresis and the FISH (Fluorescence in Situ Hybridization) were introduced, and modern thermocyclers for polymerase chain reaction (PCR), materials and reagents were acquired too. In these 50 years, 5 460 patients have been benefited to date. We study about 10 molecular markers, 12 FISH study, in addition to conventional karyotyping and chimerism studies in the MB lab at this moment. It has gone an annual average of 317 patients in the last 5 years. We have highly qualified professionals, which has made possible to lead and collaborate on national and international research, publishing numerous scientific articles, obtain relevant prizes of science and technology forum and directly contribute to the residents' formation in Hematology. Our future perspectives include the new technologies incorporation such as real-time PCR and sequencing, to complete a similar diagnostic level to any prestigious international center so we can provide quality service to our patients(AU)

Humanos , Masculino , Feminino , Análise Citogenética/métodos , Hematologia/métodos , Biologia Molecular/história , Biologia Molecular/métodos , Cuba
Rev. AMRIGS ; 61(1): 19-24, jan.-mar. 2017. tab, graf
Artigo em Português | LILACS (Américas) | ID: biblio-849061


Introdução: Análise do perfil citogenético de pacientes com Leucemia mieloide aguda (LMA) e correlação com dados clínico-epidemiológicos e seus respectivos prognósticos. Métodos: Busca de registros nos prontuários de pacientes com diagnóstico de LMA no período de janeiro de 2009 a dezembro de 2014. Mensurou-se o perfil citogenético da amostra, estratificando-a por faixa etária e classificação conforme FAB e OMS para posterior correlação dos dados de prognóstico e distribuição epidemiológica obtidos com os dados disponíveis na literatura médica atual. Resultados: Foram selecionados 38 pacientes para análise, com idades entre 1 e 84 anos. Todos os pacientes possuíam cariotipagem e 76,3% apresentavam alterações citogenéticas; 13 pacientes apresentavam cariótipo favorável (CF), 14, cariótipo intermediário (CI), 10, cariótipo desfavorável (CD) e 1 apresentava LMA secundária. No grupo com CF, a média de idade foi de 25 anos (p=0,0151); no grupo com CD, foi de 39,8%. No grupo com CF, 69,2% obtiveram remissão completa com protocolo de tratamento; no grupo com CI, 18,18% obtiveram a remissão completa, e por fim, no grupo com CD nenhum caso obteve remissão completa. Houve tendência à plaquetopenia mais significativa no grupo com CI. Conclusão: Ficou nítida a correlação das alterações citogenéticas observadas com sua respectiva importância prognóstica, corroborando a necessidade da determinação do cariótipo para o adequado manejo dos pacientes com LMA (AU)

Introduction: An analysis of the cytogenetic profile of patients with acute myeloid leukemia (AML) and correlation with clinical and epidemiological data and their respective prognoses. Methods: Search of records in the medical charts of patients diagnosed with AML from January 2009 to December 2014. The cytogenetic profile of the sample was measured by stratifying it by age group and classification according to FAB and WHO for subsequent correlation of prognostic and epidemiological distribution data obtained from the available data of the medical literature. Results: Thirty-eight patients were selected for analysis, ranging from 1 to 84 years of age. All patients had karyotyping and 76.3% presented cytogenetic alterations; 13 patients had favorable karyotype (FK), 14 intermediate karyotype (IK), 10 unfavorable karyotype (UK), and 1 had secondary AML. In the FK group, the mean age was 25 years (p = 0.0151); in the UK group, 39.8%. In the FK group, 69.2% achieved complete remission with treatment protocol; in the IK group, 18.18% had complete remission, and finally, in the UK group, no case achieved complete remission. There was a trend towards more significant thrombocytopenia in the IK group. Conclusion: The correlation of the observed cytogenetic changes with their respective prognostic importance was clear, corroborating the need to determine the karyotype for an adequate management of patients with AML (AU)

Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Leucemia Mieloide Aguda/epidemiologia , Leucemia Mieloide Aguda/genética , Brasil/epidemiologia , Aberrações Cromossômicas , Estudos Transversais , Análise Citogenética
Rev. Salusvita (Online) ; 36(4): 973-981, 2017.
Artigo em Português | LILACS (Américas) | ID: biblio-1021798


Introdução: a osteoartrite (OA) é uma doença degenerativa, caracterizada por degradação da matriz extracelular e a perda de um fenótipo condrogênico na cartilagem, com etiologia complexa, a qual envolve fatores genéticos, epigenéticos e ambientais. Objetivo: foi a análise citogenética em OA para detecção de alterações cromossômicas consistentes para estudos de biomarcadores e melhor entendimento da etiologia desta doença. Métodos: material obtido de lesão, com estudo histopatológico confirmando a OA, na articulação talonavicular direita de paciente, com 31 anos de idade, foi submetido à análise citogenética realizada a partir de cultura de células e bandamento GTG das metáfases. Resultados: o cariótipo composto evidenciou monossomia clonal dos cromossomos X, 1, 6, 9, 11, 13, 14 e 15, além das alterações estruturais de adição em 16q e 22p, deleção do 17p (com ponto de quebra que envolve o gene TP53) e 9qh+ (com envolvimento de 9q onde estão mapeados loci associados à OA). Conclusão: foram encontradas alterações cromossômicas já descritas na literatura para OA e outras ainda não referidas, mas anteriormente encontradas em outras doenças. As análises genética e epigenética da OA podem auxiliar na descoberta de biomarcadores de prognóstico e ser utilizadas, futuramente, na rotina médica para um melhor manejo dos pacientes.

Introduction: Osteoarthritis (OA) is a degenerative disease, characterized by extracellular matrix degradation and loss of a chondrogenic phenotype in the cartilage. OA has a complex etiology involving genetic, epigenetic, and environmental factors. Objective: the main aim of our study was the cytogenetic analysis in OA for detection of consistent chromosomal abnormalities for biomarker studies. Methods: a sample, with histopathology analysis confirming OA, was obtained from the right talonavicular joint of a 31-yearold female patient. Cytogenetic analysis was carried out after cell culture and GTG banding. Results: The clonal numerical alterations were monosomies of chromosomes X, 1, 6, 9, 11, 13, 14 and 15. We detected an addition material on 16q, and 22p, deletion of the 17p (with the breakpoint involving the TP53 gene) and 9qh + (significant loci on chromosome 9q have been associated with OA). Conclusion: we found chromosomal aberrations reported in the literature and other alterations not yet described, but previously reported in other diseases. Genetic and epigenetic analysis of OA may allow the discovery of prognostic biomarkers and they could influence, in the future, the medical routine for better management of patients.

Humanos , Feminino , Osteoartrite , Análise Citogenética , Pesquisa Médica Translacional