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1.
PLoS One ; 15(8): e0237157, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32760102

RESUMO

Ants (Formicidae) present considerable diversity in chromosome numbers, which vary from n = 1 to n = 60, although this variation is not proportional to that in genome size, for which estimates range from 0.18 pg to 0.77 pg. Intraspecific variation in the chromosome number and karyotype structure has been reported among species, although the variation among populations of the same species has received much less attention, and there are few data on genome size. Here, we studied the karyotype length and genome size of different populations of the fungus-farming ants Mycetophylax conformis (Mayr, 1884) and Mycetophylax morschi (Emery, 1888). We also provide remarks on procedure for the estimation of ant genome size by Flow Cytometry (FCM) analysis. Chromosome number and morphology did not vary among the populations of M. conformis or the cytotypes of M. morschi, but karyotype length and genome size were significantly distinct among the populations of these ants. Our results on the variation in karyotype length and genome size among M. morschi and M. conformis populations reveal considerable diversity that would be largely overlooked by more traditional descriptions of karyotypes, which were also supported by the estimates of genome size obtained using flow cytometry. Changes in the amount of DNA reflect variation in the fine structure of the chromosomes, which may represent the first steps of karyotype evolution and may occur previously to any changes in the chromosome number.


Assuntos
Formigas/genética , Cromossomos de Insetos/genética , Variação Genética , Genoma de Inseto , Cariótipo , Animais , Citometria de Fluxo/métodos , Cariotipagem/métodos
2.
J Cancer Res Ther ; 16(1): 18-22, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32362604

RESUMO

Introduction and Aims: Acute myeloid leukemia (AML) in adults has poor prognosis. The epidemiologic profile of patients varies greatly in different geographic locations and so do the cytogenetic abnormalities and the FAB subtype of the AML. We intended to study the clinical profile, cytogenetics, and outcomes with standard of care treatment on our population in India. Methods: This was a retrospective study with systematic review of 203 case records. Primary objectives were to know the demographic profile of AML, prevalence of various FAB subtypes, cytogenetic abnormalities, and treatment outcomes at our center, which is a referral center of oncology. Two treatment outcomes considered in study for patients of AML were achievement of remission status of the bone marrow postintensive induction chemotherapy and sustenance of the remission for 6 months, once remission is achieved. Secondary objective was to study these outcomes in non-M3 AML in relation to cytogenetics. Results: Median age was 39 years. The most common FAB subtype observed was AML M2. About 65.6% patients achieved complete remission (CR), and 42.4% patients could sustain it for next 6 months. Cytogenetics correlated with prognosis but not age. Conclusions: Our population differs from the Western population regarding lower age, lower prevalence of adverse cytogenetics, and higher prevalence of favorable cytogenetic abnormalities. Cytogenetics had a good correlation with CR rates after chemotherapy as well as its sustenance.


Assuntos
Medula Óssea/patologia , Aberrações Cromossômicas , Quimioterapia de Indução/métodos , Leucemia Mieloide Aguda/tratamento farmacológico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Índia , Cariotipagem/métodos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
3.
Gene ; 738: 144477, 2020 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-32061764

RESUMO

The wide variation found in the size of eukaryotic genomes is largely related to the accumulation of repetitive sequences. Studies show that these sequences can go through an evolutionary process (molecular co-optation) and acquire new genomic functions. Cytogenetic studies reveal a wide karyotypic variation between chelonians (order Testudines) (2n = 26-68), attributed mainly to the number of microchromosomes. The study of repetitive DNAs has the potential to provide data on the dynamics of these sequences, and how they influence the organization of the genome. Here, we reveal the first in situ mapping data of 45S rDNA, histone H3 genes, and telomeric sequences, for a species of the genus Rhinoclemmys, R. punctularia. The karyotype described here for R. punctularia is different from previous reports for the diploid complement of this species, with differences probably attributable to centric fissions and pericentric inversions or centromere repositioning. The 45S rDNA are on a single chromosome pair (like in other turtles), telomeric sequences are in terminal position on all the chromosomes, and histone H3 is dispersed in low copy number, with clusters in pericentromeric regions of three chromosome pairs. We report on the presence of a Gypsy retrotransposon insert located within H3 histone of R. punctularia, and the H3 region sequenced contained the open reading frame of the histone sequence. Comparative modeling revealed a functional pattern for the protein, thus suggesting that the Gypsy element might have been recruited for new functions in the genome of this species.


Assuntos
Sequências Repetitivas de Ácido Nucleico/genética , Retroelementos/genética , Tartarugas/genética , Animais , Mapeamento Cromossômico , Citogenética/métodos , DNA Ribossômico/genética , Diploide , Evolução Molecular , Feminino , Histonas/genética , Hibridização in Situ Fluorescente , Cariótipo , Cariotipagem/métodos , Masculino , RNA Ribossômico/genética , Telômero/genética
4.
Eur J Paediatr Neurol ; 25: 106-112, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32014392

RESUMO

OBJECTIVES: To systematically investigate chromosomal abnormalities and copy number variants (CNVs) in fetuses with different types of ventriculomegaly (VM) by karyotyping and/or chromosomal microarray analysis (CMA). METHODS: This retrospective study included 312 fetuses diagnosed with VM. Amniotic fluid and umbilical blood samples were collected by amniocentesis and cordocentesis, respectively, and subjected to karyotyping and/or CMA. Subgroup analysis by VM type, including mild VM (MVM) and severe VM (SVM), unilateral and bilateral VM, isolated VM (IVM), and non-isolated VM (NIVM), was performed. RESULTS: The detection rate of chromosomal abnormalities was 12.1% (34/281) by karyotyping and 20.6% when CMA was additionally performed (P < 0.05). Abnormalities were identified by CMA in 17.4% (38/218) of fetuses and pathogenic CNVs in 5.0% (11/218). Notably, CMA detected CNVs in 10.6% (23/218) of fetuses with normal karyotypes. The incidence of chromosomal abnormalities by karyotyping was higher in bilateral than in unilateral VM (20.5% versus 6.5%), whereas the incidence detected by CMA was higher in NIVM than in IVM (21.4% versus 10.3%; both P < 0.05). In NIVM, CMA provided an additional detection rate of 11.4% (16/140) and a detection rate of 10.0% for pathogenic CNVs and aneuploidies. Central nervous system (CNS) abnormalities were the most common other ultrasonic abnormalities. CONCLUSIONS: CMA is highly recommended for prenatal diagnosis of fetal VM together with karyotyping, especially in fetuses with bilateral VM and NIVM with abnormal CNS findings. Further study is necessary to explore the relationships between genotypes and phenotypes to facilitate prenatal diagnosis of fetal VM.


Assuntos
Ventrículos Cerebrais/anormalidades , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/genética , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Diagnóstico Pré-Natal/métodos , Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Feminino , Feto/anormalidades , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/etiologia , Cariotipagem/métodos , Malformações do Sistema Nervoso/complicações , Gravidez , Estudos Retrospectivos
5.
Asia Pac J Clin Oncol ; 16(3): 172-179, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32030889

RESUMO

AIM: The aim of this study was to evaluate the clinical and molecular characteristics of myelodysplastic syndrome (MDS) patients with monosomal karyotype (MK). METHODS: Eighty MDS patients with MK diagnosed between January 2010 and December 2018 were included in the retrospective study. Seventy-three had complex karyotype (CK) and 46 had very CK (vCK, ≥ 5 abnormalities). Clinical information was collected, and a panel of 37 genes, on which mutations have been previously reported to be associated with MDS patients, was analyzed by next-generation sequencing. Genetic and biological features and their association with survival were evaluated. RESULTS: Monosomy 5, 7, and 17 were the most frequent and mainly occurred in patients with vCK. While median overall survival (OS) for all patients was 12.8 months with 95% CI 9.1-16.5, patients with vCK had shorter OS (8.4 months with 95% CI 3.9-12.8) than those with non-vCK (16.1 months with 95% CI 11.5-20.8) (P = .02). At least one gene mutation was detected in 76 patients (95%), TP53 mutations were detected in 57 patients, and their median OS was significantly shorter than those without TP53 mutations (9.5 months with 95% CI 7.5-11.5 vs 26.1 months with 95% CI 8.0-44.2, P < .01). In 34 patients who received treatment with decitabine, 25 with TP53 mutations had higher overall response rate than those with wild-type TP53 (60% vs 22.2%, P = .03). However, OS was still significantly shorter in those with TP53 mutations (10.1 vs 26.1 months, P = .03). Multivariate analysis confirmed that TP53 mutations was an independent poor prognostic factor on OS. CONCLUSIONS: CK and vCK overlap in most of the MDS patients with MK. TP53 mutations occur more frequently in MDS patients with vCK, and both TP53 mutations and vCK are adverse prognostic factors.


Assuntos
Cariotipagem/métodos , Síndromes Mielodisplásicas/genética , Proteína Supressora de Tumor p53/genética , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monossomia , Mutação , Síndromes Mielodisplásicas/diagnóstico por imagem , Síndromes Mielodisplásicas/patologia , Prognóstico , Estudos Retrospectivos , Proteína Supressora de Tumor p53/metabolismo
6.
Hematology ; 25(1): 79-84, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32019476

RESUMO

Objectives: To explore the clinical features and prognosis of normal karyotype acute myeloid leukemia (NK-AML) pediatric patients with WT1 mutations.Methods: The clinical data and prognostic information of 220 NK-AML pediatric patients were selected from target-AML project of The Cancer Genome Atlas (TCGA) database. Survival analyses were performed for NK-AML pediatric patients with different combinations of mutations.Results: We found that 28(12.7%) NK-AML patients harbored WT1 mutations. The positive rate of FLT3-ITD in the WT1-mutated group was higher than that in the WT1 wild-type group (P = 0.002). In contrast, WT1 mutation and NPM1 mutation were mutually exclusive (P = 0.013). Furthermore, the WT1-mutated group suffered lower rates of complete remission (CR) (P < 0.001 and P < 0.001, respectively) but higher rates of minimal residual disease (MRD) (P = 0.003 and P = 0.021, respectively) after both one and two courses of induction chemotherapy. Patients with WT1 mutations had significantly worse overall survival (OS) and event-free survival (EFS) in both univariate (P < 0.001 and P = 0.007, respectively) and multivariate survival analyses (P < 0.001 and P < 0.001, respectively). The stratification analysis showed that for FLT3-ITD positive patients, WT1 mutations predicted shorter OS (P = 0.003) and EFS (P < 0.001).Conclusion: WT1 mutations conferred an independent poor prognosis for NK-AML pediatric patients.


Assuntos
Cariotipagem/métodos , Leucemia Mieloide Aguda/genética , Proteínas WT1/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Leucemia Mieloide Aguda/patologia , Masculino , Mutação , Prognóstico , Adulto Jovem
8.
Rev. lab. clín ; 12(4): e75-e80, oct.-dic. 2019. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-187317

RESUMO

Introducción: La trisomía del cromosoma 8, conocida como síndrome de Warkany, es una rara enfermedad genética que cursa con un fenotipo muy variable. Su principal característica clínica es la discapacidad intelectual, facies dismórficas y pliegues plantares profundos. Presentamos el caso de un paciente de 10 años de edad, con facies gargoloides, retraso mental y rigidez en las articulaciones. El estudio inicial del cariotipo, en el que se analizaron 20 metafases, fue normal. Se solicitó array de polimorfismos de nucleótido único (SNPs) al laboratorio. Resultados: Se detectó una ganancia completa del cromosoma 8, que se interpretó como una trisomía 8 en mosaico de aproximadamente un 20%, y que era compatible con la clínica que presentaba el paciente. Discusión: Este caso muestra las limitaciones que tiene el análisis de solo 20 metafases en el cariotipo en pacientes con aneuploidías en mosaico. En estos casos estaría recomendado ampliar el estudio a al menos 30 metafases de cara a detectar mosaicismos en baja proporción


Introduction: Chromosome 8 trisomy, known as Warkany syndrome, is a rare genetic disease that has a very variable phenotype. Its main clinical characteristic is intellectual disability, dysmorphic facies, and deep plantar folds. The case is presented of a 10-year-old patient with gargoyle-like facies, mental retardation, and joint stiffness. The initial study of the karyotype, in which 20 metaphases were analysed, was normal. A single nucleotide polymorphisms (SNPs) array was requested from the laboratory. Results: A complete gain of chromosome 8 was detected, which was interpreted as a mosaic trisomy 8 of approximately 20%, and which was compatible with the clinical presentation of the patient. Discussion: This case shows the limitations of the analysis of only 20 metaphases in the karyotype in patients with mosaic aneuploidies. In these cases it would be recommended to extend the study to at least 30 metaphases in order to detect mosaicisms in low proportion


Assuntos
Humanos , Masculino , Pré-Escolar , Polimorfismo de Nucleotídeo Único/genética , Trissomia/genética , Cromossomos Humanos Par 8/genética , Mosaicismo , Achados Incidentais , Cariotipagem/métodos , Deficiência Intelectual/genética , Escoliose/diagnóstico
9.
J Assist Reprod Genet ; 36(12): 2515-2523, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31758512

RESUMO

PURPOSE: To investigate the validity, accuracy, and clinical outcomes of Karyomapping in preimplantation genetic testing (PGT) for ß-thalassemia combined with human leukocyte antigen (HLA) matching. METHODS: A total of 128 cycles from January 2014 to December 2017 were identified, and 1205 embryos were biopsied. The case group included 88 cycles using Karyomapping for PGT-HLA, compared with 40 cycles using polymerase chain reaction-short tandem repeat (PCR-STR) as the control group. RESULTS: There were significant differences in the HLA matching rate (21.34 vs. 14.37%), the matched transferable embryo rate (9.79 vs. 14.07%), the clinical pregnancy rate (65.08 vs. 41.86%), and the spontaneous miscarriage rate (2.44 vs. 22.22%) between the case and control groups. In the case group, nearly 1/3 (33.37%) of the embryos showed aneuploidy. According to the results of single nucleotide polymorphism (SNP) haplotype analysis, the recombination rates of HBB (hemoglobin subunit beta) and HLA were 11.46% and 5.61% respectively. HLA gene recombination was mostly distributed between HLA-A and HLA-B and the downstream region of HLA-DQB1. In addition, STR analysis could be considered in the case of copy-neutral loss of heterozygosity (LOH) in the region where the HLA gene is located. CONCLUSION: Karyomapping contributes to accurate selection of matched embryos, along with aneuploidy screening. However, STRs assist identification in cases of LOH in the target region.


Assuntos
Antígenos HLA-A/genética , Antígenos HLA-B/genética , Cariotipagem/métodos , Diagnóstico Pré-Implantação , Talassemia beta/diagnóstico , Adulto , Biópsia , Transferência Embrionária , Feminino , Cadeias beta de HLA-DQ/genética , Subunidades de Hemoglobina/genética , Humanos , Perda de Heterozigosidade/genética , Gravidez , Taxa de Gravidez , Talassemia beta/genética , Talassemia beta/patologia
10.
Genes (Basel) ; 10(11)2019 10 30.
Artigo em Inglês | MEDLINE | ID: mdl-31671601

RESUMO

Sex chromosomes in some reptiles share synteny with distantly related amniotes in regions orthologous to squamate chromosome 2. The latter finding suggests that chromosome 2 was formerly part of a larger ancestral (amniote) super-sex chromosome and raises questions about how sex chromosomes are formed and modified in reptiles. Australian dragon lizards (Agamidae) are emerging as an excellent model for studying these processes. In particular, they exhibit both genotypic (GSD) and temperature-dependent (TSD) sex determination, show evidence of transitions between the two modes and have evolved non-homologous ZW sex microchromosomes even within the same evolutionary lineage. They therefore represent an excellent group to probe further the idea of a shared ancestral super-sex chromosome and to investigate mechanisms for transition between different sex chromosome forms. Here, we compare sex chromosome homology among eight dragon lizard species from five genera to identify key cytological differences and the mechanisms that may be driving sex chromosome evolution in this group. We performed fluorescence in situ hybridisation to physically map bacterial artificial chromosome (BAC) clones from the bearded dragon, Pogona vitticeps' ZW sex chromosomes and a nucleolar organising region (NOR) probe in males and females of eight Agamid species exhibiting either GSD or TSD. We show that the sex chromosome derived BAC clone hybridises near the telomere of chromosome 2q in all eight species examined. This clone also hybridises to the sex microchromosomes of three species (P vitticeps, P. barbata and Diporiphora nobbi) and a pair of microchromosomes in three others (Ctenophorus pictus, Amphibolurus norrisi and Amphibolurus muricatus). No other chromosomes are marked by the probe in two species from the closely related genus Physignathus. A probe bearing nucleolar organising region (NOR) sequences maps close to the telomere of chromosome 2q in all eight species, and to the ZW pair in P. vitticeps and P. barbata, the W microchromosome in D. nobbi, and several microchromosomes in P. cocincinus. Our findings provide evidence of sequence homology between chromosome 2 and the sex chromosomes of multiple agamids. These data support the hypothesis that there was an ancestral sex chromosome in amniotes that gave rise to squamate chromosome 2 and raises the prospect that some particular property of this chromosome has favoured its role as a sex chromosome in amniotes. It is likely that the amplification of repetitive sequences associated with this region has driven the high level of heterochromatinisation of the sex-specific chromosomes in three species of agamid. Our data suggest a possible mechanism for chromosome rearrangement, including inversion and duplication near the telomeric regions of the ancestral chromosome 2 and subsequent translocation to the ZW sex microchromosomes in three agamid species. It is plausible that these chromosome rearrangements involving sex chromosomes also drove speciation in this group.


Assuntos
Iguanas/genética , Região Organizadora do Nucléolo/genética , Cromossomos Sexuais/genética , Animais , Austrália , Evolução Biológica , Estruturas Cromossômicas/genética , Evolução Molecular , Feminino , Duplicação Gênica/genética , Hibridização in Situ Fluorescente , Cariotipagem/métodos , Lagartos/genética , Masculino , Região Organizadora do Nucléolo/fisiologia , Sequências Repetitivas de Ácido Nucleico/genética , Homologia de Sequência , Análise para Determinação do Sexo/métodos , Telômero/genética , Translocação Genética/genética
11.
Genes (Basel) ; 10(11)2019 11 08.
Artigo em Inglês | MEDLINE | ID: mdl-31717315

RESUMO

The species complex Astyanax scabripinnis is one of the most studied with respect to origin, distribution, and frequency of B chromosomes, and is considered a model organism for evolutionary studies. Research using population inferences about the occurrence and frequency of the B chromosome shows seasonal variation between sexes, which is associated with the presence of this supernumerary element. We hypothesized that the B chromosome could influence the sex ratio of these animals. Based on this assumption, the present work aimed to investigate if differences exist among levels of gene expression with qRT-PCR of the amh (associated with testicular differentiation) and foxl2a (associated with ovarian differentiation) genes between B-carrier and non-B-carrier individuals. The results showed that for the amh gene, the difference in expression between animals with B chromosomes was not accentuated compared to that in animals without this chromosome. Expression of foxl2a in B-carrier females, however, was reduced by 73.56% compared to females that lacked the B chromosome. Males had no difference in expression of the amh and foxl2a genes between carriers and non-carriers of the B chromosome. Results indicate that the presence of B chromosomes is correlated with the differential expression of sex-associated genes. An analysis of these results integrated with data from other studies on the reproductive cycle in the same species reveals that this difference in expression may be expanding the reproductive cycle of the species.


Assuntos
Characidae/genética , Reprodução/genética , Processos de Determinação Sexual/genética , Animais , Evolução Biológica , Characidae/metabolismo , Caraciformes/genética , Caraciformes/metabolismo , Bandeamento Cromossômico/métodos , Cromossomos/genética , Feminino , Expressão Gênica/genética , Genética Populacional/métodos , Cariotipagem/métodos , Masculino , Razão de Masculinidade
13.
Cytogenet Genome Res ; 159(2): 74-80, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31658462

RESUMO

We present a patient with a de novo derivative chromosome 18 which includes a terminal deletion of 18p and a terminal duplication of 18q accompanied by a cryptic duplication of 18p. The girl had mild dysmorphic features such as micro-retrognathia, upslanted palpebral fissures, bilateral epicanthus, high palate, low-set ears, short neck, and full cheeks. She also had an H-type tracheoesophageal fistula which required surgery. Her cognitive and motor skills were delayed. Karyotype analysis showed an additional segment on the short arm of chromosome 18. Chromosomal microarray revealed a 7.3-Mb terminal loss from 18p11.32 to 18p11.23, a 22.2-Mb terminal gain from 18q21.31 to 18q23, and a 3.9-Mb interstitial gain from 18p11.22 to 18p11.21. We hypothesize that the mother has gonadal mosaicism for normal chromosome 18, der(18)dup(p11.22p11.21), and der(18)dup(p11. 22p11.21)inv(18)(p11.22q21.31), or both the terminal del/dup and the interstitial duplication occurred simultaneously.


Assuntos
Cromossomos Humanos Par 18/genética , Deleção Cromossômica , Citogenética/métodos , Feminino , Humanos , Lactente , Cariotipagem/métodos
14.
Cytogenet Genome Res ; 159(2): 88-96, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31593945

RESUMO

The bush dog (Speothos venaticus, 2n = 74) is a near threatened species taxonomically classified among South American canids. We revised the bush dog karyotype and performed a comparative sequence analysis of satellite and satellite-like DNAs in 6 canids: the bush dog, domestic dog (Canis familiaris, 2n = 78), grey wolf (C. lupus, 2n = 78), Chinese raccoon dog (Nyctereutes procyonoides procyonoides, 2n = 54+B), red fox (Vulpes vulpes, 2n = 34+B), and arctic fox (V. lagopus, 2n = 48-50) to specify the species position among Canidae. Using FISH with painting and BAC probes, we found that the distribution of canid evolutionarily conserved chromosome segments in the bush dog karyotype is similar to that of the domestic dog and grey wolf. The bush dog karyotype differs by 2 acrocentric chromosome pairs formed by tandem fusions of the canine (29;34) and (26;35) orthologues. An interstitial signal of the telomeric probe was observed in the (26;35) fusion site in the bush dog indicating a recent evolutionary origin of this rearrangement. Sequences and hybridisation patterns of satellite DNAs were compared, and a phylogenetic tree of the 6 canid species was constructed which confirmed the bush dog position close to the wolf-like canids, and apart from the raccoon dog and foxes.


Assuntos
Cromossomos/genética , DNA Satélite/genética , Animais , Bandeamento Cromossômico/métodos , Cães , Evolução Molecular , Raposas/genética , Cariótipo , Cariotipagem/métodos , Filogenia , Lobos/genética
15.
Gynecol Endocrinol ; 35(sup1): 18-23, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31532310

RESUMO

The aim of this study was to analyze differences in chromosomal aberrations and euploidy in embryos of each translocation type and gender of carrier in the case series of 10 couples with balanced translocations who underwent IVF with embryos trophectoderm (TE) biopsy and PGT-A to detect chromosomal aberrations. This is a Case Series (Retrospective study). In each case, controlled ovarian hyperstimulation, oocyte insemination with intracytoplasmic sperm injection (ICSI) and cultivation gave multiple blastocysts, that underwent trophectoderm (TE) biopsy with PGT-A analysis using aCGH and NGS. Number of total unbalanced translocations compared to the number of sporadic aneuploid embryos was 39.6% to 39.6% (50% to 50% of all 37 aneuploid embryos). The highest euploidy rate was in male carrier group - 26.7% and the lowest in the Robertsonian translocation carrier group - 18.2%. Sporadic aneuploidy - 68.2% was highest in Robertsonian translocation carrier group and lowest in female group - 11.1%. Chromosomal aberrations related to translocation were highest in female carrier group - 77.8% and lowest in Robertsonian translocation carrier group - 13.6%. Our study showed that expectancy of total embryo aneuploidy rates will be higher in carriers, than in people with normal karyotype. The prevalence of chromosomal aberrations related to translocation was 4.5 times higher in Reciprocal carrier group than in Robertsonian translocation carrier group. Among maternal and paternal carrier groups, the embryos from female carriers had the lowest euploidy rate, unbalanced translocation rate 4.7 times higher than in the male carrier group and higher total aneuploidy rates.


Assuntos
Blastocisto/patologia , Aberrações Cromossômicas , Testes Genéticos/métodos , Diagnóstico Pré-Implantação/métodos , Translocação Genética , Adulto , Aneuploidia , Biópsia , Aberrações Cromossômicas/embriologia , Aberrações Cromossômicas/estatística & dados numéricos , Hibridização Genômica Comparativa , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Transferência Embrionária , Embrião de Mamíferos/patologia , Feminino , Fertilização In Vitro , Humanos , Recém-Nascido , Cariotipagem/métodos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Gravidez , Taxa de Gravidez , Estudos Retrospectivos , Injeções de Esperma Intracitoplásmicas
16.
J Cancer Res Clin Oncol ; 145(11): 2803-2811, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31463716

RESUMO

BACKGROUND: Flow cytometry (FCM) plays a crucial role in the differential diagnosis of Burkitt lymphoma/leukemia (BL) and B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The presence of surface IgM (sIgM) alone or with light chain restriction indicates a mature blast phenotype (BIV by EGIL) and is usually observed in BL. However, sIgM expression could also be detected in transitional BCP-ALL cases. These similarities in immunophenotype and ambiguous correspondence with other laboratory findings may challenge the correct BL diagnostics. METHODS: We retrospectively reviewed the available data from immunophenotypic, morphological, cytogenetic, and molecular genetic studies of 146 children (85 boys and 61 girls) with a median age of 10 years (range 0-18 years) who were diagnosed with BL and BCP-ALL. The blasts' immunophenotype was studied by multicolor FCM. The conventional cytogenetic analysis included G-banded karyotyping and fluorescence in situ hybridization (FISH). RESULTS: In 54 children classified as BIV-ALL according to the EGIL, it was demonstrated that sIgM in a minority of cases can be associated with various types of BCP-ALL. Analysis of the antigen expression profile of 105 patients with verified BL (n = 21) and BCP-ALL (n = 84) showed significant differences in BL and the sIgM(+) vs BCP-ALL immunophenotype. Thus, even in cases of ambiguous sIgM expression, these two diseases could be reliably discriminated by complex immunophenotyping. Moreover, 10 patients (7 boys and 3 girls) with BL leukemic cells did not express sIgM, and they were diagnosed with BL on the basis of other laboratory and clinical signs. CONCLUSIONS: In conclusion, our study shows that BIV subtype is heterogeneous group of leukemia including not only the BL, but also BCP-ALL. In ambiguous cases, only a combination of multiple immunophenotypic, cytomorphologic, and genetic diagnostic technologies can allow the precise discrimination of BL and BCP-ALL and selection of the appropriate treatment scheme.


Assuntos
Linfócitos B/patologia , Citometria de Fluxo/métodos , Imunofenotipagem/métodos , Cariotipagem/métodos , Leucemia-Linfoma Linfoblástico de Células Precursoras B/classificação , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Estudos Retrospectivos
17.
Acta Med Port ; 32(7-8): 529-535, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31445533

RESUMO

INTRODUCTION: Intellectual disability affects 2% - 3% of the general population, with a chromosomal abnormality being found in 4% - 28% of these patients and a cryptic subtelomeric abnormality in 3% - 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found. MATERIAL AND METHODS: Clinical and cytogenetic characterization of 21 probands followed at our center, from 1998 until 2017, with subtelomeric rearrangements. RESULTS: There were 21 probands from 19 families presenting with intellectual disability and facial dysmorphisms. Seven had behavior changes, five had epilepsy and 14 presented with some other sign or symptom. Four had chromosomal abnormalities detected by conventional karyotype and four were diagnosed by array-comparative genomic hybridization. In four cases, parental studies were not possible. The online mendelian inheritance in man classification was provided whenever any of the phenotypes (deletion or duplication syndrome) was dominant. DISCUSSION: Patients and relevant family members were clinically and cytogenetically characterized. Although rare, subtelomeric changes are a substantial cause of syndromic intellectual disability with important familial repercussions. It is essential to remember that a normal array-comparative genomic hybridization result does not exclude a balanced rearrangement in the parents. CONCLUSION: Parental genetic studies are essential not only for a complete characterization of the rearrangement, but also for accurate genetic counselling and screening of family members at risk for recurrence.


Assuntos
Face/anormalidades , Rearranjo Gênico , Deficiência Intelectual/genética , Pais , Telômero/genética , Adulto , Criança , Pré-Escolar , Aberrações Cromossômicas , Deleção Cromossômica , Hibridização Genômica Comparativa/métodos , Assimetria Facial/genética , Facies , Família , Feminino , Humanos , Hipertelorismo , Lactente , Recém-Nascido , Cariotipagem/métodos , Masculino , Fotografação , Plagiocefalia/genética , Adulto Jovem
19.
Anticancer Res ; 39(8): 4329-4332, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31366525

RESUMO

BACKGROUND/AIM: Acute myeloid leukemia is well characterized by chromosomal aberrations that correspond to various subtypes of acute leukemias. The t(8;21)(q22;q22) is a frequent chromosomal abnormality strongly associated with acute myeloblastic leukemia with maturation (AML-M2), but is rarely associated with other subtypes. Translocation involving a third chromosome could produce new genetic rearrangements that lead to leukemogenesis. PATIENTS AND METHODS: Conventional cytogenetic analysis and fluorescence in situ hybridization (FISH) were performed to identify the karyotype. Reverse transcriptase polymerase chain reaction (RT-PCR) was used to detect the AML1/ETO transcript. RESULTS/CONCLUSION: We herein report a novel rearrangement with a three-way translocation involving chromosomes 8, 21 and another unknown chromosome, in an 83-year-old female patient diagnosed as AML-M4, with an ALM1/ETO negative transcript. This is an uncommon case of AML-M4 with three-way translocation in a new variant of t(8;21) acute myeloid leukaemia. The detailed mechanism of different phenotype expression is unclear. Further study is needed to identify the leukemogenetic transformation resulting from t(8;21) translocation.


Assuntos
Análise Citogenética , Cariótipo , Leucemia Mielomonocítica Aguda/genética , Translocação Genética/genética , Idoso de 80 Anos ou mais , Cromossomos Humanos Par 21/genética , Cromossomos Humanos Par 8/genética , Feminino , Humanos , Hibridização in Situ Fluorescente/métodos , Cariotipagem/métodos , Leucemia Mielomonocítica Aguda/diagnóstico , Leucemia Mielomonocítica Aguda/patologia
20.
J Perinat Med ; 47(6): 651-655, 2019 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-31287799

RESUMO

Background Classical karyotyping and copy-number variation sequencing (CNV-seq) are useful methods for the prenatal detection of chromosomal abnormalities. Here, we examined the potential of using a combination of the two methods for improved and accurate diagnosis. Methods From February 2013 to January 2018, 64 pregnant women showing indications for fetal chromosomal examination in the affiliated hospital of the Inner Mongolia Medical University were selected for this study. Amniotic fluid was collected and used for karyotype analysis and CNV-seq. Results Karyotype analysis of the 64 cases showed that six cases (9.38%) had chromosomal abnormalities. Using CNV-seq, in addition to three cases with numerical abnormalities of chromosomes, 14 cases were detected with CNV, of which five were pathogenic CNV, four were of uncertain clinical significance and five were polymorphic CNV. However, CNV-seq failed to detect one case with sex chromosome mosaicism and a balanced translocation carrier. The rate of abnormal chromosome and CNV detection was 26.56% (17/64) by CNV-seq. Conclusion Application of CNV-seq in prenatal diagnosis could allow the detection of submicroscopic chromosomal abnormalities and effectively reduce the birth of children with microdeletion and microduplication syndrome. Additionally, the combined application of karyotype analysis and CNV-seq can effectively improve the detection rate of chromosome abnormalities.


Assuntos
Transtornos Cromossômicos , Variações do Número de Cópias de DNA , Cariotipagem/métodos , Diagnóstico Pré-Natal , Adulto , Líquido Amniótico/citologia , China/epidemiologia , Aberrações Cromossômicas , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/genética , Feminino , Idade Gestacional , Humanos , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/normas , Melhoria de Qualidade
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