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1.
J Med Case Rep ; 15(1): 98, 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-33648567

RESUMO

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is characterized by hyperinflammation and life-threatening cytopenias. Survival is poor, and management is pivotal on rapid identification of the disease. HLH is associated with hematologic malignancies, however correlation with myelodysplastic syndromes (MDS) is exceedingly unusual. Although minimizing overwhelming hyperinflammation by treating hemophagocytosis are central for HLH outcome, there is urgent necessity to identify potential initiating mechanisms that could assist in therapy design. CASE DESCRIPTION: Here, we describe an elderly African American patient who developed rapid onset of cytopenias and coagulopathy associated with hepatic and bone marrow hemophagocytosis. We analyze four additional similar cases to isolate clinical, laboratory and cytogenetic findings expected in patients exhibiting concurrent HLH and MDS. HLH linked with MDS retains common HLH features associated with systemic hyperinflammation such as fever, hypotension, hepatosplenomegaly, hyperferritinemia, coagulopathy and rapidly evolving cytopenias. Typical MDS chromosomic abnormality such as trisomy 8 was frequently observed in our studied cases. CONCLUSION: Our case describes difficulties while managing HLH in MDS patients. Diagnosis should be based on identifying HLH appropriate criteria and if possible karyotypic abnormalities normally observed in MDS.


Assuntos
Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/genética , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/genética , Idoso de 80 Anos ou mais , Medula Óssea/patologia , Cromossomos Humanos Par 8 , Evolução Fatal , Feminino , Humanos , Cariótipo , Trissomia
2.
Zhonghua Yi Xue Za Zhi ; 101(13): 939-944, 2021 Apr 06.
Artigo em Chinês | MEDLINE | ID: mdl-33789375

RESUMO

Objective: To analyze the possible fusion genes with high-throughput transcriptome sequencing in myeloid leukemia patients with normal karyotype. Methods: From May 2017 to January 2019, three cases of myeloid leukemia patients with normal karyotype and negative for common fusion genes from the First Affiliated Hospital of Nanchang University were selected as the research objects. The transcriptome sequencing of bone marrow mononuclear cells was performed by high-throughput gene sequencing technology. Defuse software was used to analyze the gene fusion sequence in the transcriptome data, reverse-transcription polymerase chain reaction (RT-PCR) and Sanger sequencing were used to verify the fusion gene with clear pathological significance. Results: All three patients were diagnosed with myeloid leukemia by clinical manifestations, bone marrow cell morphology, immunology, and histochemical staining. Cytogenetic tests showed normal chromosome karyotypes. Fluorescence in situ hybridization and RT-PCR were used to detect BCR-ABL1, PML-RARA, and other common fusion genes. The results were all negative. Transcriptome sequencing and fusion transcripts analysis revealed that these three patients carried rare fusion genes with clear pathological significance, which included BCR-FGFR1, CPSF6-RARG, and NUP98-RARG, respectively. Conclusion: Transcriptome sequencing can accurately analyze rare but pathologically significant fusion genes that may exist in myeloid leukemia patients with normal karyotypes.


Assuntos
Leucemia Mieloide , Transcriptoma , Fusão Gênica , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Reação em Cadeia da Polimerase Via Transcriptase Reversa
3.
Zootaxa ; 4910(1): zootaxa.4910.1.1, 2021 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-33756593

RESUMO

The Nearctic shield-back katydid genus Neduba is revised. Species boundaries were demarcated by molecular phylogenetic analysis, morphology, quantitative analysis of calling songs, and karyotypes. Nine previously described species are redescribed: N. carinata, N. castanea, N. convexa, N. diabolica, N. extincta, N. macneilli, N. propsti, N. sierranus, and N. steindachneri, and twelve new species are described: N. ambagiosa sp. n., N. arborea sp. n., N. cascadia sp. n., N. duplocantans sp. n., N. inversa sp. n., N. longiplutea sp. n., N. lucubrata sp. n., N. oblongata sp. n., N. prorocantans sp. n., N. radicata sp. n., N. radocantans sp. n., and N. sequoia sp. n. We chose a lectotype for N. steindachneri and transferred N. picturata from a junior synonym of N. diabolica to a junior synonym of N. steindachneri. Diversification in this relict group reflects cycles of allopatric isolation and secondary contact amidst the tumultuous, evolving geography of western North America. The taxonomy and phylogenies presented in this revision lay the groundwork for studies of speciation, biogeography, hybrid zones, and behavioral evolution. Given that one Neduba species is already extinct from human environmental disturbance, we suggest conservation priorities for the genus.


Assuntos
Ortópteros/classificação , Filogenia , Distribuição Animal , Animais , Geografia , Cariótipo
4.
Zootaxa ; 4938(1): zootaxa.4938.1.5, 2021 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-33756986

RESUMO

Phalangopsids are a diverse group of crickets found in all tropical and subtropical regions, and includes 1044 valid species. Up to now, only 22 species were studied cytologically, with the chromosome number ranging from 2n = 11 to 2n = 21. In this paper we studied the chromosomes of 12 phalangopsid species from different Brazilian biomes (eight of them reported for the first time), and we traced some trends on chromosomal derivation in this group, based on chromosome morphology and fundamental number. We found that in the phalangopsid species the karyotype concentrates a large amount of metacentric chromosomes, the result of successive centric fusions over evolutionary time. Moreover, pericentric inversions and translocations have been also important in the chromosomal derivation of these crickets.


Assuntos
Gryllidae , Animais , Inversão Cromossômica , Gryllidae/genética , Cariótipo , Cariotipagem
5.
BMJ Case Rep ; 14(2)2021 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-33547101

RESUMO

A 17-year-old girl presented with secondary amenorrhoea. She developed normal age-appropriate secondary sexual characteristics and attained menarche at the age of 13 years. One year following her menarche, she was diagnosed with acute myeloid leukaemia and was treated with chemotherapy, total body radiation and bone marrow transplant with complete remission. The matched donor was her elder male sibling. Her evaluation for secondary amenorrhoea included full hormonal analysis and pelvic ultrasound scan. These suggested hypergonadotrophic hypogonadism with a normal uterus and ovaries. Peripheral leucocyte karyotype as part of routine hypogonadism workup was found to be 46 XY. The differential diagnosis of Swyer syndrome, which entails surgical removal of gonads due to the high risk of gonadoblastoma, was raised initially before reviewing the laboratory results of previous chromosomal analysis. Considering her medical history, the amenorrhoea was finally attributed to ovarian insufficiency due to chemotherapy and radiotherapy. The 46 XY karyotyping could be explained by the bone marrow transplant received from her donor brother. Hypogonadism causing amenorrhoea is commonly encountered after chemoradiotherapy. Pretreatment and post-treatment chromosomal analysis is essential in such cases. Karyotyping could be misleading especially if the patient suffered from graft-versus-host reaction post gender mismatched bone marrow transplant.


Assuntos
Amenorreia/etiologia , Transplante de Medula Óssea , Leucemia Mieloide Aguda/terapia , Adolescente , Diagnóstico Diferencial , Feminino , Humanos , Cariótipo
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(2): 134-137, 2021 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-33565065

RESUMO

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


Assuntos
Variações do Número de Cópias de DNA , Feto , Cariotipagem , Diagnóstico Pré-Natal , Criança , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cariótipo , Gravidez
7.
Medicine (Baltimore) ; 100(2): e24091, 2021 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-33466173

RESUMO

RATIONALE: Partial trisomy of the long arm of chromosome 6 syndrome is a rare chromosomal disorder with distinctive phenotypic expressivity, in which cytogenetic abnormalities are usually reported in infancy and childhood. Ultrasonographic findings on trisomy of the distal long arm of chromosome 6 in previous studies are limited. PATIENT CONCERNS: A 32-year-old, gravida 6, para 1, pregnant woman who had 4 spontaneous abortions underwent a clinical ultrasound examination at 26 weeks of gestation. DIAGNOSES: Ultrasonographic findings were microcephaly, an acoustic image of a transparent septum, a flat nasal bridge, right pulmonary artery stenosis, and a single umbilical artery. Cytogenetic and single-nucleotide polymorphism array analyses were performed to estimate genetic factors of this diagnosis by amniocentesis. INTERVENTIONS: After genetic counseling, the patient and her husband opted to terminate the pregnancy. OUTCOMES: Cytogenetic examination of the fetus showed the karyotype 46,XX,der(20)t(6;20)(q24;p13). The single-nucleotide polymorphism (SNP) array showed a 22.104-Mb duplication of 6q24.3q27 and a 0.784-Mb deletion of 20p13. LESSONS: Ultrasonographic findings of fetal abnormalities, including microcephaly, an acoustic image of a transparent septum, a flat nasal bridge, right pulmonary artery stenosis, and a single umbilical artery, may be related to a 22.104-Mb duplication of 6q24.3q27 and a 0.784-Mb deletion of 20p13. More ultrasonographic and genotype studies are required to extend the phenotypic characterization of partial trisomy 6q syndrome.


Assuntos
Transtornos Cromossômicos/diagnóstico por imagem , Ultrassonografia Pré-Natal , Aborto Induzido , Adulto , Amniocentese , Transtornos Cromossômicos/embriologia , Cromossomos Humanos Par 6 , Feminino , Feto/diagnóstico por imagem , Humanos , Cariótipo , Polimorfismo de Nucleotídeo Único , Gravidez , Trissomia
9.
Zootaxa ; 4876(1): zootaxa.4876.1.1, 2020 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-33311337

RESUMO

Oryzomyini represents the most diverse and speciose tribe of subfamily Sigmodontinae, with 29 genera and about 141 species. This great diversity of species is distributed from southeastern North to southern South America. Its systematics have passed through major changes in the last years due to the integration of molecular data with morphological characters in phylogenetic inferences. Unsurprisingly, cytogenetic studies on Oryzomyini reflect such diversity, with chromosome diploid number varying from 2n = 16 to 2n = 88. In addition, some species present autosomal and sex chromosome polymorphisms, besides the presence of B chromosomes. However, despite decades of cytogenetic studies, our knowledge about the karyotype variability in this group were still poorly known. Considering such deep and profound changes on the tribe, along with important new evidence that was continuously being produced associated to field work in several areas of Brazil and South America, we performed a cytogenetic review of the Oryzomyini group. We provide standardized descriptions summarizing all the knowledge associated to the known species of the tribe. We also describe seven new karyotypes for the tribe, Euryoryzomys sp., 2n = 58 and FN = 92; Neacomys sp. 1, 2n = 48 and FN = 54; Neacomys sp. 2, 2n = 54 and FN = 62; Oecomys sp. 1, 2n = 54 and FN = 84; Oecomys sp. 2, 2n = 64 and FN = 92; Oecomys sp. 3, 2n = 84 and FN = 110; and Scolomys sp., 2n = 62 and FN = 80.


Assuntos
Arvicolinae , Sigmodontinae , Animais , Coloração Cromossômica , Cariótipo , Filogenia , Roedores , Sigmodontinae/genética , Especificidade da Espécie
10.
Medicine (Baltimore) ; 99(40): e22532, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019458

RESUMO

RATIONALE: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, which can be detected in patients with developmental retardation, infertile problems, and prenatal fetus. We report 3 adult female with fertility problems carrying sSMC(14/22) and aim to explore the correlation between sSMC(14/22) and fertility problems in women. PATIENT CONCERNS: Three Chinese female patients were referred for infertility consultation in our hospital. DIAGNOSES: The karyotype of these 3 patients were 47, XX, +mar. The chromosome microarray analysis (CMA) detected various chromosomal duplications and deletions in the 3 cases: a 0.49Mb gain of 5q32 for case 1; a 0.54Mb gain of 14q32.33 and a 1.83Mb gain of 16p11.2 for case 2; a 0.37Mb loss of 13q21.2q21.31 and a 0.12Mb gain of Xp11.2 for case 3. Fluorescence in situ hybridization (FISH) using the specific probes for chromosomes 13/21, 14/22, and 15 was applied to identify the origination of these sSMC, which were all finally identified as sSMC(14/22). INTERVENTIONS: Case 1 underwent the artificial reproductive technology to get her offspring and finally delivered a healthy male infant at 39 weeks. Case 2 did not plan to choose in vitro fertilization (IVF) to get offspring. Case 3 refused to do assisted reproductive technology. OUTCOMES: The genotype-phenotype correlation of sSMC(14/22) remain unclear. However, the existence of sSMC(14/22) might negatively affect the fertility ability in sSMC female carriers. LESSONS: The combined application of traditional banding technique and molecular cytogenetic techniques can better identify more details of sSMC. For sSMC carriers with fertility problems, they could get their offsprings through assisted reproductive technologies after comprehensive fertility assessment.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 22/genética , Infertilidade Feminina/genética , Adulto , China , Duplicação Cromossômica , Análise Citogenética , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariótipo
11.
Zootaxa ; 4779(1): zootaxa.4779.1.1, 2020 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-33055796

RESUMO

We describe four new Glaphyrosoma species: G. brevivaginalis n. sp., G. huasteca n. sp., G. paragracile n. sp. and G. unumtympana n. sp. We redescribe and provide new distributional data for G. gracile, G. mexicanum and G. stephanosoltis. The subfamily status to tribe Glaphyrosomatini is proposed and a key to identify the genera is provided. The key to Glaphyrosoma species is updated to include the species here described. Finally, we present karyotype data and drumming information for selected species.


Assuntos
Aracnídeos , Ortópteros , Distribuição Animal , Animais , Cariótipo
12.
Proc Biol Sci ; 287(1935): 20201388, 2020 09 30.
Artigo em Inglês | MEDLINE | ID: mdl-32993470

RESUMO

The structure of a genome can be described at its simplest by the number of chromosomes and the sex chromosome system it contains. Despite over a century of study, the evolution of genome structure on this scale remains recalcitrant to broad generalizations that can be applied across clades. To address this issue, we have assembled a dataset of 823 karyotypes from the insect group Polyneoptera. This group contains orders with a range of variations in chromosome number, and offer the opportunity to explore the possible causes of these differences. We have analysed these data using both phylogenetic and taxonomic approaches. Our analysis allows us to assess the importance of rates of evolution, phylogenetic history, sex chromosome systems, parthenogenesis and genome size on variation in chromosome number within clades. We find that fusions play a key role in the origin of new sex chromosomes, and that orders exhibit striking differences in rates of fusions, fissions and polyploidy. Our results suggest that the difficulty in finding consistent rules that govern evolution at this scale may be due to the presence of many interacting forces that can lead to variation among groups.


Assuntos
Evolução Molecular , Insetos , Cromossomos Sexuais , Animais , Feminino , Tamanho do Genoma , Cariótipo , Partenogênese , Filogenia , Poliploidia
13.
BMC Med Genet ; 21(1): 182, 2020 09 17.
Artigo em Inglês | MEDLINE | ID: mdl-32943010

RESUMO

BACKGROUND: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or microdeletions in the EFTUD2 gene. CASE PRESENTATION: Here, we investigate the case of a young girl with symptoms of MFDM and a normal karyotype. Whole-exome sequencing of the family was performed to identify genetic alterations responsible for this phenotype. We identified a de novo synonymous variant in the EFTUD2 gene. We demonstrated that this synonymous variant disrupts the donor splice-site in intron 9 resulting in the skipping of exon 9 and a frameshift that leads to a premature stop codon. CONCLUSIONS: We present the first case of MFDM caused by a synonymous variant disrupting the donor splice site, leading to exon skipping.


Assuntos
Disostose Mandibulofacial/genética , Microcefalia/genética , Mutação , Fatores de Alongamento de Peptídeos/genética , Processamento de RNA , Ribonucleoproteína Nuclear Pequena U5/genética , Sequência de Bases , Criança , Feminino , Humanos , Cariótipo , Fenótipo
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(10): 1069-1073, 2020 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-32924103

RESUMO

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for the screening of fetal chromosomal abnormalities. METHODS: For 12 085 pregnant women, the results of NIPT and invasive prenatal diagnosis were compared. RESULTS: The test was successful in 12 067 cases and has detected 179 chromosomal abnormalities, with a positive rate of 1.48%, sensitivity of 98.39% and specificity of 99.02%. Invasive prenatal diagnosis was performed for 3 of 18 patients who had failed NIPT but has detected no karyotypic abnormality. Except for one case of twin Cesarean section which delivered a normal female fetus and a stillbirth of unknown sex, the remainder of the 18 cases all had a normal delivery. The positive rate of NIPT screening for the abnormal ultrasound group was significant higher than that other groups (P< 0.01). Among those with positive results of NIPT, 122 underwent invasive prenatal diagnosis, and 25 trisomy 21, 7 trisomy 18, 3 trisomy 13, 4 aneuploidies of other autosomes, 13 sex chromosomal aneuploidies and 9 microdeletion/microduplications were confirmed, which yielded a positive predictive rate of 86.21%, 50.00%, 23.08%, 21.05%, 46.43%, and 47.36%, respectively. CONCLUSION: NIPT has high sensitivity, specificity and positive predictive value, and is an effective method for prenatal screening. In addition to chromosomes 21, 18 and 13, NIPT has certain predictive value for other autosomal aneuploidies, sex chromosomal aneuploidies, microdeletion/microduplications, and can provide a reference for karyotype analysis and chromosomal microarray verification.


Assuntos
Aberrações Cromossômicas , Diagnóstico Pré-Natal/métodos , Aneuploidia , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Feto , Humanos , Cariótipo , Valor Preditivo dos Testes , Gravidez , Sensibilidade e Especificidade , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética
15.
An Acad Bras Cienc ; 92(suppl 2): e20191364, 2020 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-32901677

RESUMO

The species of the genus Arachis (Leguminosae) are ordered into nine sections. The assignment of genome types in this genus has been based on cross-compatibility analysis and molecular cytogenetic studies. The latter has also allowed karyotypically establishing well-defined genomes and reassigning the genome of several species. However, most of these studies have been focused mainly on the sections Arachis and Rhizomatosae. To increase the knowledge about the chromosome diversity of the whole genus, here we performed a detailed karyotype characterization of representative species of most of the sections and genomes of Arachis. This characterization included chromosome morphology, CMA/DAPI chromosome banding, and chromosome marker localization (rDNAloci and one satDNA sequence) by fluorescent in situ hybridization (FISH). Based on the data obtained and other previously published data, we established the karyotype similarities by cluster analysis and defined eleven karyotype groups. The grouping was partly coincident with the traditional genome assignment, except for some groups and some individual species. Karyotype similarities among some genomes were also found. The main characteristics of each karyotype group of Arachis were summarized. Together, our results provide information that may be beneficial for future cytogenetic and evolutionary studies, and also contribute to the identification of interspecific hybrids.


Assuntos
Arachis , Genoma de Planta , Arachis/genética , DNA Ribossômico , Hibridização in Situ Fluorescente , Indóis , Cariótipo
16.
Cell Prolif ; 53(10): e12892, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32918782

RESUMO

OBJECTIVES: Genetic engineering of human-induced pluripotent stem cell-derived neural stem cells (hiPSC-NSC) may increase the risk of genomic aberrations. Therefore, we asked whether genetic modification of hiPSC-NSCs exacerbates chromosomal abnormalities that may occur during passaging and whether they may cause any functional perturbations in NSCs in vitro and in vivo. MATERIALS AND METHODS: The transgenic cassette was inserted into the AAVS1 locus, and the genetic integrity of zinc-finger nuclease (ZFN)-modified hiPSC-NSCs was assessed by the SNP-based karyotyping. The hiPSC-NSC proliferation was assessed in vitro by the EdU incorporation assay and in vivo by staining of brain slices with Ki-67 antibody at 2 and 8 weeks after transplantation of ZFN-NSCs with and without chromosomal aberration into the striatum of immunodeficient rats. RESULTS: During early passages, no chromosomal abnormalities were detected in unmodified or ZFN-modified hiPSC-NSCs. However, at higher passages both cell populations acquired duplication of the entire long arm of chromosome 1, dup(1)q. ZNF-NSCs carrying dup(1)q exhibited higher proliferation rate than karyotypically intact cells, which was partly mediated by increased expression of AKT3 located on Chr1q. Compared to karyotypically normal ZNF-NSCs, cells with dup(1)q also exhibited increased proliferation in vivo 2 weeks, but not 2 months, after transplantation. CONCLUSIONS: These results demonstrate that, independently of ZFN-editing, hiPSC-NSCs have a propensity for acquiring dup(1)q and this aberration results in increased proliferation which might compromise downstream hiPSC-NSC applications.


Assuntos
Cromossomos Humanos Par 1/genética , Edição de Genes/métodos , Células-Tronco Pluripotentes Induzidas/metabolismo , Células-Tronco Neurais/metabolismo , Encéfalo/metabolismo , Encéfalo/patologia , Diferenciação Celular , Proliferação de Células , Células Cultivadas , Duplicação Gênica , Vetores Genéticos/genética , Vetores Genéticos/metabolismo , Humanos , Células-Tronco Pluripotentes Induzidas/citologia , Cariótipo , Células-Tronco Neurais/citologia , Proteínas Proto-Oncogênicas c-akt/metabolismo , Dedos de Zinco/genética
17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(8): 839-842, 2020 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-32761590

RESUMO

OBJECTIVE: To explore the mechanism of a false-negative result from karyotyping of chorionic villi cells for a trisomy 13 fetus featuring multiple malformations. METHODS: For a fetus with multiple malformations by ultrasonography and a 46,XY karyotype by chorionic villi analysis, amniocytes were further analyzed with quantitative fluorescence PCR (QF-PCR), G-banded karyotyping and chromosomal microarray analysis (CMA). Meanwhile, non-invasive prenatal testing (NIPT) was conducted on peripheral blood sample from the pregnant woman to determine the chromosomal composition of cytotrophoblast. After induction of labor, common aneuploidies in placenta and fetal tissue were also analyzed by QF-PCR. RESULTS: QF-PCR, chromosomal karyotyping and CMA analysis of the amniocytes all suggested complete trisomy 13 (47,XY,+13) in the fetus. NIPT also suggested existence of fetal trisomy 13. QF-PCR analysis of the placenta and fetal tissues revealed that cells derived from the maternal surface and right side of fetal surface harbored mosaic trisomy 13, while those derived from other sites of fetal surface of the placenta, umbilical cord, amniotic membrane and fetal muscle tissue harbored trisomy 13. CONCLUSION: Karyotyping of long-term cultured chorionic villus sample may give rise to false negative results due to placental mosaicism. To ensure accurate prenatal diagnosis, discordance between karyotyping of chorionic villi cells, fetal ultrasound and NIPT result should be verified by amniocentesis or cordocentesis and application of multiple cytogenetic and molecular techniques.


Assuntos
Amostra da Vilosidade Coriônica , Cariotipagem , Diagnóstico Pré-Natal , Síndrome da Trissomia do Cromossomo 13/genética , Amniocentese , Feminino , Feto , Humanos , Cariótipo , Mosaicismo , Gravidez , Síndrome da Trissomia do Cromossomo 13/diagnóstico
19.
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
20.
Rev. chil. obstet. ginecol. (En línea) ; 85(4): 335-342, ago. 2020. tab
Artigo em Espanhol | LILACS | ID: biblio-1138629

RESUMO

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


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


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Diagnóstico Pré-Natal/métodos , Análise Citogenética , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Diagnóstico Pré-Natal/estatística & dados numéricos , Trissomia , Epidemiologia Descritiva , Estudos Retrospectivos , Sangue Fetal , Cariótipo , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomia do Cromossomo 13/epidemiologia , Síndrome da Trissomía do Cromossomo 18/genética , Síndrome da Trissomía do Cromossomo 18/epidemiologia , Amniocentese , Líquido Amniótico , Aneuploidia
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