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1.
Front Genet ; 12: 676832, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34367240

RESUMO

Objective: Global developmental delay has markedly high phenotypic and genetic heterogeneity, and is a great challenge for clinical diagnosis. Hypotonia, ataxia, and delayed development syndrome (HADDS), first reported in 2017, is one type of global development delay. The aim of the present study was to investigate the genetic etiology of a Chinese boy with global developmental delay. Methods: We combined clinical and imaging phenotyping with trio whole-exome sequencing and Sanger sequencing to the patient and his clinically unaffected parents. A luciferase reporter and immunofluorescence were performed to detect the effect of mutation on transcriptional activity and subcellular localization. Results: The patient presented with several previously unreported symptoms in the patients with HADDS, including hemangiomas, mild hearing abnormalities and tracheomalacia. A novel EBF3 c.589A > G missense mutation (p.Asn197Asp, p.N197D) was identified in the patient but not in his parents. By constructing the plasmid and transfecting HEK293T cells, EBF3-N197D mutant showed impaired activation of luciferase reporter expression of the p21 promoter, and the mutant affected its entry into the nucleus. Conclusion: To the best of our knowledge, this is the first report of EBF3 pathogenic mutation which associated with HADDS in the Chinese population. Our results expand the phenotypes and pathogenic mutation spectrum of HADDS, thus potentially facilitating the clinical diagnosis and genetic counseling of HADDS patients.

2.
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
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(10): 1172-1175, 2020 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-32924128

RESUMO

OBJECTIVE: To explore the nature of chromosomal abnormality in a fetus with nasal bone dysplasia and clarify its clinical effect. METHODS: Fetal chromosome karyotype was analyzed by G-banding. Single nucleotide polymorphism array (SNP-array) was used to detect the chromosomal copy number variations, and fluorescence in situ hybridization (FISH) was used to verify the result. RESULTS: Fetal karyotype analysis showed an unknown chromosomal fragment in 21q21 region. SNP-array discovered a 7.5 Mb duplication in the 21q22.12q22.3 region. FISH confirmed that the unknown fragment was derived from a 21q22.12q22.3 duplication. CONCLUSION: Combined use of karyotype analysis, SNP-array and FISH has clarified the nature of chromosomal abnormality in a fetus with nasal bone dysplasia, which has enabled more accurate prenatal diagnosis and genetic counseling.


Assuntos
Doenças do Desenvolvimento Ósseo/genética , Diagnóstico Pré-Natal , Trissomia , Doenças do Desenvolvimento Ósseo/diagnóstico , Cromossomos Humanos Par 21 , Variações do Número de Cópias de DNA , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Polimorfismo de Nucleotídeo Único , Gravidez , Trissomia/diagnóstico , Trissomia/genética
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(9): 1036-1038, 2020 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-32820525

RESUMO

OBJECTIVE: To carry out prenatal diagnosis for a fetus with increased nuchal translucency (NT) and another fetus with non-invasive prenatal testing (NIPT) suggested reduced sex chromosomes by cytogenetic and molecular techniques. METHODS: Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were applied for the diagnoses. Peripheral blood samples were also taken from their parents for chromosomal karyotyping and SNP-array analysis. RESULTS: Both fetuses showed a 46,X,+mar/45,X karyotype. SNP-array has detected a 22.0 Mb duplication at Yp11.31q11.223 and a 3.9 Mb microdeletion at Yq11.223q11.23 in fetus 1, and a 16.9 Mb duplication at Yp11.31q11.221 and a 8.1 Mb deletion at Yq11.222q11.23 in fetus 2. The results were confirmed by FISH. The parents of both fetuses were normal by chromosomal karyotyping and SNP-array. CONCLUSION: Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.


Assuntos
Mosaicismo , Diagnóstico Pré-Natal , Cromossomos Humanos Y , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Polimorfismo de Nucleotídeo Único , Gravidez
5.
Andrologia ; 52(6): e13602, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32352591

RESUMO

Sex chromosome abnormality (SCA) is one of the major causes of male spermatogenesis dysfunction. In our study, we sought to investigate the novel X chromosome inversion leading to severe oligozoospermia. Here, we report two brothers with severe oligozoospermia without any other abnormal clinical phenotype. The chromosome karyotypes in peripheral blood of both brothers were 46, Y, inv (X) (p22.3, q22), and no Y chromosome microdeletion was found. The karyotype of their mother was 46, X, inv (X) (p22.3, q22) and that of their father was 46, XY. This is the first report in China that X chromosomal inversion, 46, Y, inv (X) (p22.3, q22), is associated with severe oligozoospermia. This inversion may be a direct genetic risk factor for spermatogenesis.


Assuntos
Inversão Cromossômica/genética , Cromossomos Humanos X/genética , Oligospermia/genética , Linhagem , Adulto , Fertilização In Vitro , Humanos , Cariótipo , Masculino , Herança Materna , Análise do Sêmen , Aberrações dos Cromossomos Sexuais , Irmãos , Injeções de Esperma Intracitoplásmicas
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(4): 405-409, 2020 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-32219823

RESUMO

OBJECTIVE: To carry out genetic testing for 3 fetuses with abnormal prenatal screening. METHODS: Fetal ultrasound, karyotype analysis, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization were performed. RESULTS: Abnormalities of chromosome 22 were found with all 3 fetuses. Fetus 1 harbored a 7.1 Mb deletion in 22q13.2q13.33 region, which involved 54 OMIM genes including SHANK3 and FBLN1. Fetus 2 had a mosaicism karyotype, with 12% of cells harboring a 6.6 Mb deletion in 22q13.31q13.33, covering 48 OMIM genes such as SHANK3 and PPARA, and 5% of cells harboring a 26.1 Mb duplication in 22q11.1q13.2 involving 285 OMIM genes. Fetus 3 carried a tandem duplication of 1.7 Mb in 22q11.1q11.21, which involved 10 OMIM genes including CECR1, CECR2 and ATP6V1E1. No abnormality was found in the three couples by chromosomal karyotyping and SNP array analysis. CONCLUSION: The severity of diseases caused by chromosome 22 abnormalities not only depends on the range of the deletion or duplication, but is also closely related to chromosome structure, gene dose and genetic environment. Combined ultrasonography and various genetic testing techniques in prenatal diagnosis can greatly increase the detection rate of genetic diseases with substantial phenotypic variation.


Assuntos
Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 22/genética , Testes Genéticos , Cariotipagem , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal , Aberrações Cromossômicas , Deleção Cromossômica , Transtornos Cromossômicos/genética , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Gravidez , Fatores de Transcrição
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(12): 1222-1225, 2019 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-31813153

RESUMO

OBJECTIVE: To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins. METHODS: G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs. RESULTS: The karyotype of the fetus was determined as 47, XX, +mar[53]/48, XX, +2 mar[31]/46, XX[14]. SNP-array has revealed four copies of chromosome 2q11.1q11.2 with a size of 2.6 Mb and three copies of 10p11.23q11.23 with a size of 20.6 Mb. The results was confirmed by FISH. CONCLUSION: A rare chromosomal abnormality with two sSMCs was identified by combined karyotype analysis, SNP-array and FISH, which provided valuable information for prenatal diagnosis.


Assuntos
Aberrações Cromossômicas , Diagnóstico Pré-Natal , Bandeamento Cromossômico , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez
8.
Analyst ; 143(21): 5271-5277, 2018 Oct 22.
Artigo em Inglês | MEDLINE | ID: mdl-30280731

RESUMO

A portable electrochemical immunosensing protocol was designed for the sensitive detection of a disease-related tumor biomarker (carcinoembryonic antigen, CEA, used in this case) on a pH meter using glucose oxidase (GOx)-encapsulated gold hollow microspheres (AuHMs) for signal amplification. The assay was carried out on a monoclonal anti-CEA capture antibody-coated microplate with a sandwich-type reaction mode. The GOx-entrapped AuHM was first synthesized using the reverse micelle method and then used as the signal-generation tag for the labeling of polyclonal anti-CEA detection antibody. Accompanying the formation of the sandwiched immunocomplexes, the loaded GOx molecules in the microsphere could catalyze glucose into gluconic acid and hydrogen peroxide. The as-produced gluconic acid changed the microenvironment of the detection solution, thus resulting in the shift of the pH value, which could be quantitatively determined on a portable pH meter. The use of gold hollow microspheres was expected to enhance the loaded amount of GOx for signal amplification. Two labeling protocols including GOx-labeled secondary antibody and GOx-AuHM-labeled secondary antibody were investigated for CEA detection, and improved analytical features were acquired with GOx-AuHM labeling. With the GOx-AuHM labeling strategy, the pH meter-based immunosensing device exhibited a good analytical performance for CEA detection within the dynamic linear range of 0.1-100 ng mL-1 at a detection limit of 0.062 ng mL-1. The strong attachment of anti-CEA antibodies to GOx-AuHM brought a good repeatability and intermediate precision down to 10%. Importantly, no significant differences at the 0.05 significance level were encountered in the analysis of 12 human serum specimens between the developed immunoassay and the commercialized electrochemiluminescent method for CEA determination.


Assuntos
Antígeno Carcinoembrionário/sangue , Glucose Oxidase/química , Ouro/química , Imunoensaio/métodos , Microesferas , Anticorpos Imobilizados/imunologia , Anticorpos Monoclonais/imunologia , Antígeno Carcinoembrionário/imunologia , Técnicas Eletroquímicas/instrumentação , Glucose/química , Humanos , Concentração de Íons de Hidrogênio , Limite de Detecção , Reprodutibilidade dos Testes
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(4): 415-9, 2013 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-23926007

RESUMO

OBJECTIVE: To assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes. METHODS: Sixteen patients with marker chromosomes were analyzed with technologies including GTG-banding, Q-banding, multiplex FISH and BAC-FISH. RESULTS: The marker chromosomes in the 16 patients were verified as der(Y) (2 cases), psu dic(Y) (1 case), psu dic(15) (1 case), dic(15) (1 case), del(Y) (1 case), r(X) (5 cases), i(14 or 22) (2 cases), i(18) (1 case). CONCLUSION: FISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.


Assuntos
Aberrações Cromossômicas , Doenças Genéticas Inatas/genética , Marcadores Genéticos/genética , Hibridização in Situ Fluorescente/métodos , Adolescente , Adulto , Criança , Feminino , Doenças Genéticas Inatas/diagnóstico , Humanos , Masculino , Adulto Jovem
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 25(5): 570-2, 2008 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-18841574

RESUMO

OBJECTIVE: To explore the applications of fluorescence in situ hybridization (FISH) in the diagnosis for the patients with gonadal dysgenesis. METHODS: After routine gynecologic examination, ultrasonography and endocrine examination, 5 cases of gonadal dysgenesis and hypogonadism were analyzed by using chromosomal diagnoses including G-banding, Q-banding, multiplex FISH and BAC-FISH analyses. RESULTS: Among the 5 cases of gonad agenesis patients, 2 were pure gonadal dysgenesis with 46, XY karyotype, 3 were mixed gonadal dysgenesis with mos 45, X/47, XXX; 45, X/46, XY or 46, X, der(Y) karyotype. CONCLUSION: Sex chromosomal abnormalities resulted in gonadal dysgenesis symptoms. Applications of FISH and BAC-FISH analyses can correctly diagnose the sex chromosomal abnormalities for patients with gonad agenesis and provide accurate medical genetic data for clinical diagnosis and therapy.


Assuntos
Cromossomos Artificiais Bacterianos/genética , Disgenesia Gonadal/genética , Hibridização in Situ Fluorescente/métodos , Adolescente , Disgenesia Gonadal/diagnóstico , Disgenesia Gonadal/patologia , Disgenesia Gonadal/terapia , Humanos , Cariotipagem , Masculino , Aberrações dos Cromossomos Sexuais
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 24(3): 256-60, 2007 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-17557232

RESUMO

OBJECTIVE: To explore the use of fluorescence in situ hybridization (FISH) and high resolution-comparative genomic hybridization (HR-CGH) techniques in amenorrhea study. METHODS: After routine gynecologic examination, ultrasonography and endocrine examination, 17 cases of primary amenorrhea and 1 case of secondary amenorrhea were analysed by using chromosomal diagnoses including multiplex FISH and HR-CGH analyses. RESULTS: Among 17 cases of primary amenorrhea, 7 revealed a 46,XX karyotype; 10 cases (58.8%) had abnormal karyotype, including 3 cases of 46,XY females, 2 cases of Turner's syndrome with 45,X and 45,X/46,XX, and other 5 cases with abnormal structure of X chromosome (including partial monosomy of X,X isochromosome and X/Y mosaic). The karyotype of the patient with secondary amenorrhea was translocation between X chromosome and euchromosome. CONCLUSION: The using of FISH and HR-CGH can correctly diagnose the patients' karyotypes, and provide absolutely necessarily medical genetic data for clinical diagnosis and therapy.


Assuntos
Amenorreia/genética , Amenorreia/patologia , Aberrações Cromossômicas , Adolescente , Adulto , Amenorreia/diagnóstico , Cromossomos Humanos/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem
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