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1.
Georgian Med News ; (316-317): 119-123, 2021.
Artigo em Russo | MEDLINE | ID: mdl-34511457

RESUMO

There are data about 6 cases of acute leukemia in children who have been diagnosed with COVID-19 infection 1-1,5 months before, or at the same time. In 5 patients lymphoblastic and in one monoblastic acute leukemia were diagnosed. The course of leukemia passed without any particular complications. Attention is drawn to the presence in 5 patients of either a clone with high hyperdiploidy, or the presence of an increased number of polyploid cells. At the same time, pulverization and fragmentation of chromosomes often observed during radiation, viral exposure, cancer and precancerous hyperplasia, were found. It is suggested that the mitosis disorder we identified in several cases of COVID-19, accompanied by polyploidy, pulverization and fragmentation of chromosomes, can be regarded as a "second hit " during development of childhood acute leukemia, or as an accelerator of the manifestation of an already existing process.


Assuntos
COVID-19 , Leucemia-Linfoma Linfoblástico de Células Precursoras , Criança , Aberrações Cromossômicas , Humanos , Cariotipagem , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , SARS-CoV-2
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 779-782, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365624

RESUMO

OBJECTIVE: To explore the genetic basis for a child with febrile seizures. METHODS: Peripheral venous blood samples were taken from the child and his parents for the analysis of chromosomal karyotype and dynamic variant of the FMR1 gene. The family trio was also subjected to target capture and next generation sequencing (NGS) with a gene panel related to developmental retardation, mental retardation, language retardation, epilepsy and special facial features. RESULTS: The child was found to have a normal karyotype by conventional cytogenetic analysis (400 bands). No abnormal expansion was found with the CGG repeats of the FMR1 gene. NGS revealed that the child has carried a heterozygous c.864+1 delG variant of the MEF2C gene, which may lead to abnormal splicing and affect its protein function. The same variant was found in neither parent, suggesting that it has a de novo origin. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.864+1delG variant of MEF2C gene was predicted to be pathogenic (PVS1+PS2+PM2). CONCLUSION: MEF2C, as the key gene for chromosome 5q14.3 deletion syndrome which was speculated as a cause for febrile seizures, has an autosomal dominant effect. The c.864+1delG variant of the MEF2C gene may account for the febrile seizures in this patient.


Assuntos
Transtornos Cromossômicos , Epilepsia , Deficiência Intelectual , Criança , Deleção Cromossômica , Proteína do X Frágil de Retardo Mental , Humanos , Deficiência Intelectual/genética , Cariotipagem , Fatores de Transcrição MEF2/genética
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 735-739, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365613

RESUMO

OBJECTIVE: To investigate the clinical features of fetuses with Wolf-Hirschhorn syndrome(WHS) and explore the diagnostic methods and prenatal ultrasound characteristics and provide evidence for prenatal genetic counseling. METHODS: We retrospectively analyzed 5 cases of WHS fetuses diagnosed from March 2016 to February 2020, and analyzed the results of chromosomal karyotype analysis and chromosomal microarray analysis (CMA) of the fetuses. RESULTS: Five cases of WHS were detected by CMA, four cases were detected by karyotype analysis. Prenatal ultrasound revealed 4 abnormalities, of which 3 had intrauterine growth restriction, and only 1 had abnormalities of the maxillofacial region. The sequence of the fragments was 4p16.3p16.1 with a loss of 6.5 Mb, 4p16.3p15.32 with a loss of 15.6 Mb combined with 2p25.3 increased by 906kb, 4p16.3p15.31 with a loss of 20.4 Mb, 4p16.p15.1 with a loss of 35 Mb and 4p16.3p14 with a loss of 37 Mb. CONCLUSION: Fetal growth restriction may be one of the early manifestations of WHS. Absence of fetal facial abnormality by prenatal ultrasound screening cannot exclude WHS. Karyotype analysis may miss the diagnosis of WHS, while combined CMA techniques can improve the diagnostic accuracy.


Assuntos
Síndrome de Wolf-Hirschhorn , Cromossomos Humanos Par 4/genética , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/genética , Humanos , Cariotipagem , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Síndrome de Wolf-Hirschhorn/genética
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 768-770, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365621

RESUMO

OBJECTIVE: To carry out genetic testing for a pregnant woman with mild mental retardation, facial dysmorphism, and a history of adverse pregnancies and provide prenatal diagnosis for her. METHODS: Routine G-banded karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis were performed on the couple and amniotic fluid sample. RESULTS: No karyotypic abnormality was found with the couple and amniotic fluid sample. SNP-array analysis showed that the woman has carried a 7.801 Mb microdeletion in 10q22.3q23.2, which involved 18 OMIM genes including CDHR1, BMPR1A, NRG3, GRID1 and LDB3, which are associated with facial abnormalities, developmental retardation, mental retardation and autism. The fetus also carried a 7.819 Mb deletion in the same region, while the father showed no abnormality. CONCLUSION: Both the pregnant woman and her fetus have carried a 10q22.3q23.2 microdeletion, which has provided guidance for her subsequent pregnancy.


Assuntos
Testes Genéticos , Diagnóstico Pré-Natal , Caderinas , Bandeamento Cromossômico , Deleção Cromossômica , Feminino , Feto , Humanos , Cariotipagem , Proteínas do Tecido Nervoso , Gravidez
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 783-786, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365625

RESUMO

OBJECTIVE: To carry out prenatal diagnosis for a fetus with absent nasal bone by using cytogenetic and molecular techniques. METHODS: Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) assays were applied for the diagnoses. Peripheral blood samples were also taken from the parents for chromosomal karyotyping and FISH analysis. RESULTS: The fetus was found to have a 46,XX,add(21)(p11.2) karyotype, and SNP-array has revealed a 11.3 Mb duplication at 21q22.12q22.3 (hg19: 36 762 648-48 093 361), which was confirmed by FISH. Both parents were found to be normal by chromosomal karyotyping and FISH analysis. The fetus was ultimately found to have a karyotype of 46,XX,der(21)t(21;21)(p11.2;q22.1), resulting a de novo partial trisomy of 21q22.1. CONCLUSION: Combined use of various techniques has enabled accurate prenatal diagnosis and genetic counseling for the fetus.


Assuntos
Osso Nasal , Trissomia , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Gravidez , Diagnóstico Pré-Natal , Trissomia/genética
6.
Am J Hum Genet ; 108(8): 1409-1422, 2021 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-34237280

RESUMO

Chromosomal aberrations including structural variations (SVs) are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics. Drawbacks of these tests are a very low resolution (karyotyping) and the inability to detect balanced SVs or indicate the genomic localization and orientation of duplicated segments or insertions (copy number variant [CNV] microarrays). Here, we investigated the ability of optical genome mapping (OGM) to detect known constitutional chromosomal aberrations. Ultra-high-molecular-weight DNA was isolated from 85 blood or cultured cells and processed via OGM. A de novo genome assembly was performed followed by structural variant and CNV calling and annotation, and results were compared to known aberrations from standard-of-care tests (karyotype, FISH, and/or CNV microarray). In total, we analyzed 99 chromosomal aberrations, including seven aneuploidies, 19 deletions, 20 duplications, 34 translocations, six inversions, two insertions, six isochromosomes, one ring chromosome, and four complex rearrangements. Several of these variants encompass complex regions of the human genome involved in repeat-mediated microdeletion/microduplication syndromes. High-resolution OGM reached 100% concordance compared to standard assays for all aberrations with non-centromeric breakpoints. This proof-of-principle study demonstrates the ability of OGM to detect nearly all types of chromosomal aberrations. We also suggest suited filtering strategies to prioritize clinically relevant aberrations and discuss future improvements. These results highlight the potential for OGM to provide a cost-effective and easy-to-use alternative that would allow comprehensive detection of chromosomal aberrations and structural variants, which could give rise to an era of "next-generation cytogenetics."


Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos/diagnóstico , Mapeamento Cromossômico/métodos , Análise Citogenética/métodos , Variações do Número de Cópias de DNA , Genoma Humano , Análise em Microsséries/métodos , Transtornos Cromossômicos/genética , Humanos , Cariotipagem
7.
Am J Hum Genet ; 108(8): 1423-1435, 2021 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-34237281

RESUMO

Somatic structural variants (SVs) are important drivers of cancer development and progression. In a diagnostic set-up, especially for hematological malignancies, the comprehensive analysis of all SVs in a given sample still requires a combination of cytogenetic techniques, including karyotyping, FISH, and CNV microarrays. We hypothesize that the combination of these classical approaches could be replaced by optical genome mapping (OGM). Samples from 52 individuals with a clinical diagnosis of a hematological malignancy, divided into simple (<5 aberrations, n = 36) and complex (≥5 aberrations, n = 16) cases, were processed for OGM, reaching on average: 283-fold genome coverage. OGM called a total of 918 high-confidence SVs per sample, of which, on average, 13 were rare and >100 kb. In addition, on average, 73 CNVs were called per sample, of which six were >5 Mb. For the 36 simple cases, all clinically reported aberrations were detected, including deletions, insertions, inversions, aneuploidies, and translocations. For the 16 complex cases, results were largely concordant between standard-of-care and OGM, but OGM often revealed higher complexity than previously recognized. Detailed technical comparison with standard-of-care tests showed high analytical validity of OGM, resulting in a sensitivity of 100% and a positive predictive value of >80%. Importantly, OGM resulted in a more complete assessment than any previous single test and most likely reported the most accurate underlying genomic architecture (e.g., for complex translocations, chromoanagenesis, and marker chromosomes). In conclusion, the excellent concordance of OGM with diagnostic standard assays demonstrates its potential to replace classical cytogenetic tests as well as to rapidly map novel leukemia drivers.


Assuntos
Aberrações Cromossômicas , Mapeamento Cromossômico/métodos , Análise Citogenética/métodos , Variações do Número de Cópias de DNA , Genoma Humano , Neoplasias Hematológicas/diagnóstico , Análise em Microsséries/métodos , Neoplasias Hematológicas/genética , Humanos , Cariotipagem
8.
Am J Hum Genet ; 108(8): 1436-1449, 2021 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-34216551

RESUMO

Despite widespread clinical genetic testing, many individuals with suspected genetic conditions lack a precise diagnosis, limiting their opportunity to take advantage of state-of-the-art treatments. In some cases, testing reveals difficult-to-evaluate structural differences, candidate variants that do not fully explain the phenotype, single pathogenic variants in recessive disorders, or no variants in genes of interest. Thus, there is a need for better tools to identify a precise genetic diagnosis in individuals when conventional testing approaches have been exhausted. We performed targeted long-read sequencing (T-LRS) using adaptive sampling on the Oxford Nanopore platform on 40 individuals, 10 of whom lacked a complete molecular diagnosis. We computationally targeted up to 151 Mbp of sequence per individual and searched for pathogenic substitutions, structural variants, and methylation differences using a single data source. We detected all genomic aberrations-including single-nucleotide variants, copy number changes, repeat expansions, and methylation differences-identified by prior clinical testing. In 8/8 individuals with complex structural rearrangements, T-LRS enabled more precise resolution of the mutation, leading to changes in clinical management in one case. In ten individuals with suspected Mendelian conditions lacking a precise genetic diagnosis, T-LRS identified pathogenic or likely pathogenic variants in six and variants of uncertain significance in two others. T-LRS accurately identifies pathogenic structural variants, resolves complex rearrangements, and identifies Mendelian variants not detected by other technologies. T-LRS represents an efficient and cost-effective strategy to evaluate high-priority genes and regions or complex clinical testing results.


Assuntos
Aberrações Cromossômicas , Análise Citogenética/métodos , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Predisposição Genética para Doença , Genoma Humano , Mutação , Variações do Número de Cópias de DNA , Feminino , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cariotipagem , Masculino , Análise de Sequência de DNA
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 690-693, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34247380

RESUMO

OBJECTIVE: To explore the phenotypic and genetic characteristics of acute megakaryoblastic leukemia (AMKL) in young children accompany by WT1, MLL-PTD and EVI1, in order to improve the diagnosis level of AMKL. METHODS: EDTA-K2 anticoagulation venous blood was collected for blood routine and morphological analysis of blood cells; bone marrow was extracted for cell morphology, immunophenotype, chromosome karyotype and fusion gene analysis. RESULTS: White blood cell count was 12.3× 109/L, hemoglobin was 73 g/L, and platelet count was 13× 109/L. The morphological analysis of blood cells showed that the size of immature cells was like that of primitive immature lymphocytes, which was circular or irregular and part of them with obvious pseudopodia. The cytoplasm is basophilic with heterogeneous coloration and granules. Nuclear chromatin is fine and even, 1-3 nucleoli can be seen, these immature cells account for about 40%; the morphology of bone marrow cells was consistent with acute leukemia, negative for peroxidase staining, negative for AS-DNCE staining and alpha-NBE staining. Flow cytometry results showed that the protocells account for about 52% and significant expression of megakaryocytes related markers (cCD41+, CD61+, CD36+). Chromosome karyotype is 46, XX, der(3) add(3)(p21)add(3)(q25), add (9)(q22), -13, +mar [4]/46, XX, del(13)(q12q22) [3]/46, XX[3]. The fusion gene WT1 was overexpressed, MLL-PTD and EVI1 were positive. CONCLUSION: Acute megakaryocytic leukemia has unique and complex phenotypic and genetics characteristics.


Assuntos
Leucemia Megacarioblástica Aguda , Medula Óssea , Criança , Pré-Escolar , Aberrações Cromossômicas , Humanos , Cariotipagem , Leucemia Megacarioblástica Aguda/genética , Proteína do Locus do Complexo MDS1 e EVI1 , Megacariócitos , Proteínas de Fusão Oncogênica , Proteínas WT1
10.
Nat Genet ; 53(8): 1187-1195, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34211178

RESUMO

Central to tumor evolution is the generation of genetic diversity. However, the extent and patterns by which de novo karyotype alterations emerge and propagate within human tumors are not well understood, especially at single-cell resolution. Here, we present 3D Live-Seq-a protocol that integrates live-cell imaging of tumor organoid outgrowth and whole-genome sequencing of each imaged cell to reconstruct evolving tumor cell karyotypes across consecutive cell generations. Using patient-derived colorectal cancer organoids and fresh tumor biopsies, we demonstrate that karyotype alterations of varying complexity are prevalent and can arise within a few cell generations. Sub-chromosomal acentric fragments were prone to replication and collective missegregation across consecutive cell divisions. In contrast, gross genome-wide karyotype alterations were generated in a single erroneous cell division, providing support that aneuploid tumor genomes can evolve via punctuated evolution. Mapping the temporal dynamics and patterns of karyotype diversification in cancer enables reconstructions of evolutionary paths to malignant fitness.


Assuntos
Neoplasias Colorretais/genética , Neoplasias Colorretais/patologia , Análise de Célula Única/métodos , Proliferação de Células/genética , Cromatina/genética , Cromossomos Humanos , Dosagem de Genes , Humanos , Cariótipo , Cariotipagem , Microscopia Confocal , Mitose , Organoides/crescimento & desenvolvimento , Organoides/patologia , Fuso Acromático/genética
11.
Cytogenet Genome Res ; 161(3-4): 153-159, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34229322

RESUMO

Terminal deletions in the long arm of chromosome 4 are an uncommon event, with a worldwide incidence of approximately 0.001%. The majority of these deletions occur de novo. Terminal deletion cases are usually accompanied by clinical findings that include facial and cardiac anomalies, as well as intellectual disability. In this study, we describe the case of a 2-year-old girl, the fourth child born to consanguineous parents. While her karyotype was normal, a homozygous deletion was identified in the chromosome 4q35.2 region by subtelomeric FISH. A heterozygous deletion of the chromosome 4q35.2 region was observed in both parents. According to the literature, this is the first report of a case that has inherited a homozygous deletion of chromosome 4qter from carrier parents. Subsequent array-CGH analyses were performed on both the case and her parents. Whole-exome sequencing was also carried out to determine potential variants. We detected a NM_001111125.3:c.2329G>T (p.Glu777Ter) nonsense variant of the IQSEC2 gene in the girl, a variant that is related to X-linked intellectual disability.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 4/genética , Códon sem Sentido , Fatores de Troca do Nucleotídeo Guanina/genética , Deficiência Intelectual/genética , Pré-Escolar , Consanguinidade , Feminino , Genes Ligados ao Cromossomo X/genética , Homozigoto , Humanos , Cariotipagem , Telômero/genética , Sequenciamento Completo do Exoma
12.
Int J Mol Sci ; 22(11)2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-34206020

RESUMO

Three dimensional (3D) ultra-structural imaging is an important tool for unraveling the organizational structure of individual chromosomes at various stages of the cell cycle. Performing hitherto uninvestigated ultra-structural analysis of the human genome at prophase, we used serial block-face scanning electron microscopy (SBFSEM) to understand chromosomal architectural organization within 3D nuclear space. Acquired images allowed us to segment, reconstruct, and extract quantitative 3D structural information about the prophase nucleus and the preserved, intact individual chromosomes within it. Our data demonstrate that each chromosome can be identified with its homolog and classified into respective cytogenetic groups. Thereby, we present the first 3D karyotype built from the compact axial structure seen on the core of all prophase chromosomes. The chromosomes display parallel-aligned sister chromatids with familiar chromosome morphologies with no crossovers. Furthermore, the spatial positions of all 46 chromosomes revealed a pattern showing a gene density-based correlation and a neighborhood map of individual chromosomes based on their relative spatial positioning. A comprehensive picture of 3D chromosomal organization at the nanometer level in a single human lymphocyte cell is presented.


Assuntos
Cromossomos/genética , Linfócitos/citologia , Mitose/genética , Troca de Cromátide Irmã/genética , Núcleo Celular/genética , Cromossomos/ultraestrutura , Humanos , Cariotipagem , Linfócitos/ultraestrutura , Microscopia Eletrônica de Varredura
13.
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi ; 33(3): 297-300, 2021 May 28.
Artigo em Chinês | MEDLINE | ID: mdl-34286533

RESUMO

OBJECTIVE: To investigate the karyotypes and C bands of Triatoma rubrofasciata in China, so as to understand its chromosome number, morphology and C-band staining of T. rubrofasciata. METHODS: The testis specimens were sampled from male T. rubrofasciata collected from Shunde City, Guangdong Province, prepared into slides of metaphase chromosomes and subjected to Giemsa staining and C-band staining. The morphology of metaphase chromosomes and the location of heterochromatin were observed using microscopy, and the long arm and short arm of each chromosome and total chromosome length were recorded to analyze the karyotypes and C bands of T. rubrofasciata. RESULTS: The male T. rubrofasciata presented a chromosome number of 2n = 25, including 22 autosomes and 3 sex chromosomes. The relative length of chromosomes ranged from 3.59% to 12.76%, the arm ratio was 1.06 to 1.24, and the centromere index was 44.76% to 48.47%. All chromosomes were metacentric chromosomes and the karyotype formula was 2n = 22 metacentric + X1X2Y, and the C bands varied on different chromosomes. No heterochromatin was found in the X chromosome, and the overall staining appeared pale, while heterochromatin was detected in all regions of the Y chromosome, and the overall staining appeared dark. In addition, heterochromatin was present in both ends of the autosome. CONCLUSIONS: The male T. rubrofasciata presents a chromosome number of 2n = 25 in China, and the karyotype formula is 2n = 22 metacentric + X1X2Y. C-banding shows dark staining of the Y chromosome, pale staining of the X chromosome, and dark staining of both ends of the autosome. Our data may provide insights into the investigation on the origin, evolution and gene mapping of T. rubrofasciata in China.


Assuntos
Triatoma , Animais , China , Heterocromatina , Cariótipo , Cariotipagem , Masculino , Triatoma/genética
14.
Anticancer Res ; 41(8): 3747-3751, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34281833

RESUMO

BACKGROUND/AIM: Myofibroblastoma of the breast is a rare benign mesenchymal tumor whose morphology is similar to that of spindle-cell lipoma. The few hitherto genetically investigated mammary myofibroblastomas have been shown to have had loss of material from chromosome 13, changes that are also common in spindle-cell lipoma. Our aim was to add to the existing knowledge of genetic aberrations in mammary myofibroblastoma by investigating another such tumor. MATERIALS AND METHODS: Cytogenetic and array comparative genome hybridization (aCGH) analyses were performed on a surgically removed mammary myofibroblastoma from a 76-year-old man. RESULTS: Short-term cultured cells from the tumor showed the karyotype 45,XY,-13[3]/44~45,idem,add(19)(q13)[cp2]. aCGH detected loss of one entire chromosome 13 and heterozygous loss from 19q between sub-band 19q13.12 and 19qter. CONCLUSION: These findings add to the evidence that loss of 13q material is typical of mammary myofibroblastomas.


Assuntos
Cromossomos Humanos Par 13 , Monossomia/genética , Neoplasias de Tecido Muscular/genética , Idoso , Bandeamento Cromossômico , Hibridização Genômica Comparativa , Humanos , Cariotipagem , Masculino
16.
Stem Cell Res ; 53: 102389, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-34088016

RESUMO

We report the generation of three human induced pluripotent stem cell (hiPSC) lines (NUIGi047-A, NUIGi047-B, NUIGi047-C) from a healthy 7-year-old boy using non-integrational Sendai re-programming method expressing OCT4, SOX2, KLF4 and C-MYC. Stem cell characterization was confirmed through morphology, immunofluorescence staining and RT-qPCR. Differentiation potential in vitro was demonstrated to all three germ layers with STR lineage verification and normal molecular karyotyping through the process of re-programming.


Assuntos
Células-Tronco Pluripotentes Induzidas , Diferenciação Celular , Criança , Camadas Germinativas , Humanos , Cariotipagem , Masculino
17.
Medicine (Baltimore) ; 100(25): e24691, 2021 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-34160378

RESUMO

ABSTRACT: Branchio-Oto (BO) syndrome is one of the common syndromic forms of hearing loss. In this study, we aimed to characterize the clinical and genetic features of BO syndrome in a Chinese deaf family.The proposita in this study was a 29-years-old Chinese female with hearing loss, microtia, anterior concave auricle, and right branchial fistula. The family members agreed to undergo clinical examination. We collected blood samples from 7 family members, including 4 affected by the syndrome. Genomic DNA was extracted and subjected to Sanger sequencing. In addition, bioinformatics software SWISS MODEL was used to predict the protein encoded by EYA transcriptional coactivator and phosphatase 1 (EYA1) gene.Intra-familial consistency can be observed in the clinical phenotypes of BO syndrome in this family. EYA1 c.1627C>T (p.Gln543Ter) mutation was identified as the pathogenic cause in this family.This study reports a mutation associated with BO syndrome in a Chinese Han family. We highlight the utility of genetic testing in the diagnosis of BO syndrome. Thus, we believe that this report would provide a basis for the diagnosis of similar diseases in the future.


Assuntos
Síndrome Brânquio-Otorrenal/genética , Microtia Congênita/genética , Perda Auditiva/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas Nucleares/genética , Proteínas Tirosina Fosfatases/genética , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Audiometria , Síndrome Brânquio-Otorrenal/diagnóstico , Criança , Biologia Computacional , Microtia Congênita/diagnóstico , Análise Mutacional de DNA , Feminino , Testes Genéticos , Perda Auditiva/congênito , Perda Auditiva/diagnóstico , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Linhagem
18.
Medicine (Baltimore) ; 100(25): e26331, 2021 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-34160397

RESUMO

ABSTRACT: Mosaicism can be observed in karyotype analyses of amniotic fluid cells. Differentiating between true mosaicism and pseudomosaicism and determining mosaic proportions can help avoid misjudgments by doctors and effectively reduce mental and physical harm to pregnant women. However, the detection of mosaicism and mosaic proportions via karyotype analysis and fluorescence in situ hybridization (FISH) is extremely complex. We have developed a novel approach, "segmental duplication quantitative fluorescent PCR" (SD-QF-PCR), to detect mosaicism and mosaic proportions.In this study, twenty control samples and fourteen mosaic samples were tested by first-line karyotype analysis; by second-line karyotype analysis, SD-QF-PCR and FISH were used to reassess fetal sex chromosome mosaicism and mosaic proportions.Detection of the 20 control samples by second-line karyotype analysis via FISH and SD-QF-PCR showed normal and consistent results. Among the 14 mosaic samples, the numbers of samples showing true mosaicism and pseudomosaicism detected by the three methods were 6 and 8, respectively.Our study demonstrates that SD-QF-PCR can be used as a complementary method to traditional cytogenetic analysis of amniotic fluid mosaics and has clinical application value.


Assuntos
Cariotipagem/métodos , Mosaicismo , Reação em Cadeia da Polimerase/métodos , Diagnóstico Pré-Natal/métodos , Aberrações dos Cromossomos Sexuais , Amniocentese , Líquido Amniótico/citologia , Células Cultivadas , Estudos de Viabilidade , Feminino , Humanos , Hibridização in Situ Fluorescente , Gravidez , Cultura Primária de Células
19.
Cytogenet Genome Res ; 161(3-4): 195-202, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34126615

RESUMO

Ctenoluciidae (Characiformes), a family of freshwater fishes, comprises 2 genera, Ctenolucius and Boulengerella, with 7 recognized species. Up to now, only species of the genus Boulengerella have been subjected to cytogenetic studies. Here, we investigated the karyotype and other cytogenetic features of pike characin, Ctenolucius hujeta, using conventional (Giemsa staining, C-banding, Ag-NOR staining) and molecular (rDNA, telomeric sequences, and fiber-FISH mapping) procedures. This species has a diploid chromosome number of 2n = 36, and a karyotype composed of 12m + 20sm + 4a and FN = 68, similar to that found in Boulengerella species. However, differences regarding the number and distribution of several chromosomal markers support a distinct generic status. Colocalization of the 18S and 5S rDNA genes is an exclusive characteristic of the C. hujeta genome, with an interspersed distribution in the chromosomal fiber, an unusual phenomenon among eukaryotes. Additionally, our results support the view that Ctenoluciidae and Lebiasinidae families are closely related.


Assuntos
Caraciformes/genética , Cromossomos/genética , Análise Citogenética/métodos , Cariotipagem/métodos , Animais , Caraciformes/classificação , Bandeamento Cromossômico , Diploide , Evolução Molecular , Feminino , Genoma/genética , Hibridização in Situ Fluorescente/métodos , Cariótipo , Masculino , RNA Ribossômico 18S/genética , RNA Ribossômico 5S/genética , Telômero/genética
20.
Stem Cell Res ; 54: 102397, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34098200

RESUMO

The 46, XX male sex reversal syndrome (SRS) is a rare disease with a gender dysplasia phenotype. Scientists concur that SRS is associated with translocation of the sex-determining region Y gene (SRY). We obtained peripheral blood mononuclear cells (PBMCs)from an 18-year-old male with SRS to generate an induced pluripotent stem cell (iPSC) line (SMUSHi001-A). Karyotyping analysis of the patient PBMCs revealed a normal 46, XX karyotype carrying the SRY gene. Pluripotent markers were successfully detected in SMUSHi001-A which can be differentiated into three germ layers in vitro. This cell line will provide a cell model for exploring the pathogenesis and potential therapeutic methods of SRS.


Assuntos
Transtornos Testiculares 46, XX do Desenvolvimento Sexual , Células-Tronco Pluripotentes Induzidas , Transtornos Testiculares 46, XX do Desenvolvimento Sexual/genética , Adolescente , Genes sry , Humanos , Cariotipagem , Leucócitos Mononucleares , Masculino
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