Base de dados : MEDLINE
Pesquisa : C16.131.260.830 [Categoria DeCS]
Referências encontradas : 211 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 22 ir para página                         

  1 / 211 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
[PMID]:28586082
[Au] Autor:Björlin Avdic H; Giacobini M; Anderlid BM; Nordgren A; Frisén L
[Ad] Endereço:Karolinska Institutet Department of Clinical Neuroscience - Stockholm, Sweden Karolinska Institutet Department of Clinical Neuroscience - Stockholm, Sweden.
[Ti] Título:Otillräcklig kunskap om samband mellan könskromosom­­avvikelser och psykiatriska diagnoser - Viktigt att barn och unga utreds och får rätt omhändertagande..
[So] Source:Lakartidningen;114, 2017 Jun 02.
[Is] ISSN:1652-7518
[Cp] País de publicação:Sweden
[La] Idioma:swe
[Ab] Resumo:Sex chromosome abnormalities are among the most common genetic changes. The manifestations vary and may include growth abnormalities, specific appearance features, and other endocrinological and physical disorders, but also delayed psychomotor development, learning disabilities, and psychiatric conditions including ADHD and autism spectrum disorders. Increased knowledge about the relationship between sex chromosome abnormalities, development and psychiatric conditions would enable improved care of these patients.
[Mh] Termos MeSH primário: Transtornos do Neurodesenvolvimento/genética
Aberrações dos Cromossomos Sexuais
Transtornos dos Cromossomos Sexuais/complicações
[Mh] Termos MeSH secundário: Adolescente
Criança
Proteínas de Homeodomínio/genética
Seres Humanos
Transtornos dos Cromossomos Sexuais/epidemiologia
Proteína de Homoeobox de Baixa Estatura
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170607
[St] Status:MEDLINE


  2 / 211 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28357876
[Au] Autor:Zhang B; Lu BY; Yu B; Zheng FX; Zhou Q; Chen YP; Zhang XQ
[Ad] Endereço:Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.
[Ti] Título:Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.
[So] Source:J Int Med Res;45(2):621-630, 2017 Apr.
[Is] ISSN:1473-2300
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping. Results The study enrolled 10 275 pregnant women who were prepared to undergo NIPT. Of these, 57 pregnant women (0.55%) showed fetal SCA, including 27 with Turner syndrome (45,X), eight with Triple X syndrome (47,XXX), 12 with Klinefelter syndrome (47,XXY) and three with 47,XYY. Thirty-three pregnant women agreed to undergo fetal karyotyping and 18 had results consistent with NIPT, while 15 patients received a normal karyotype result. The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17). Conclusion NIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X).
[Mh] Termos MeSH primário: Aneuploidia
DNA/genética
Síndrome de Klinefelter/diagnóstico
Síndrome de Noonan/diagnóstico
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico
Transtornos dos Cromossomos Sexuais/diagnóstico
Trissomia/diagnóstico
Cariótipo XYY/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos X/genética
DNA/sangue
Feminino
Feto
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Cariotipagem
Síndrome de Klinefelter/sangue
Síndrome de Klinefelter/genética
Síndrome de Klinefelter/patologia
Síndrome de Noonan/sangue
Síndrome de Noonan/genética
Síndrome de Noonan/patologia
Valor Preditivo dos Testes
Gravidez
Segundo Trimestre da Gravidez
Diagnóstico Pré-Natal/estatística & dados numéricos
Aberrações dos Cromossomos Sexuais
Transtornos dos Cromossomos Sexuais/sangue
Transtornos dos Cromossomos Sexuais/genética
Transtornos dos Cromossomos Sexuais/patologia
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/sangue
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologia
Cromossomos Sexuais/química
Cromossomos Sexuais/patologia
Trissomia/genética
Trissomia/patologia
Cariótipo XYY/sangue
Cariótipo XYY/genética
Cariótipo XYY/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170331
[St] Status:MEDLINE
[do] DOI:10.1177/0300060517695008


  3 / 211 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28273668
[Au] Autor:Maurin ML; Arfeuille C; Sonigo P; Rondeau S; Vekemans M; Turleau C; Ville Y; Malan V
[Ad] Endereço:Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.
[Ti] Título:Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.
[So] Source:Cytogenet Genome Res;151(3):115-118, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Segmental aneusomies are usually associated with clinical consequences, but an increasing number of nonpathogenic cytogenetically visible as well as large cryptic chromosomal imbalances have been reported. Here, we report a 3.6-Mb Xq21.33 microduplication detected prenatally on a female fetus which was inherited from a phenotypically normal mother and grandfather. It is assumed that male patients harboring Xq or Xp duplication present with syndromic intellectual disability because of functional disomy of the corresponding genes. Female carriers are generally asymptomatic because of preferential inactivation of the abnormal X. In the present case, the 3.6-Mb-duplicated segment encompasses only 2 genes, DIAPH2 and RPL4A. Since the asymptomatic grandfather carries the duplication, we hypothesize that these genes are not dosage sensitive and/or involved in cognitive function. Our observation further illustrates that large copy number variants can be associated with a normal phenotype, especially where gene density is low. Reporting rare cases of large genomic imbalances without a phenotypic effect can be very helpful, especially for genetic counseling in the prenatal setting.
[Mh] Termos MeSH primário: Duplicação Cromossômica/genética
Cromossomos Humanos X/genética
Transtornos dos Cromossomos Sexuais/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Proteínas de Transporte/genética
Variações do Número de Cópias de DNA
Feminino
Seres Humanos
Recém-Nascido
Masculino
Meia-Idade
Fenótipo
Proteínas Ribossômicas/genética
Transtornos dos Cromossomos Sexuais/genética
Inativação do Cromossomo X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (DIAPH2 protein, human); 0 (Ribosomal Proteins); 0 (ribosomal protein L4)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170309
[St] Status:MEDLINE
[do] DOI:10.1159/000460278


  4 / 211 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27997249
[Au] Autor:Campos-Acevedo LD; Ibarra-Ramirez M; de Jesús Lugo-Trampe J; de Jesús Zamudio-Osuna M; Torres-Muñoz I; Del Roble Velasco-Campos M; Rojas-Patlan L; Rodríguez-Sánchez IP; Martínez-de-Villarreal LE
[Ad] Endereço:Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
[Ti] Título:Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy.
[So] Source:Genet Test Mol Biomarkers;20(12):786-790, 2016 Dec.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIMS: In this study, we examined the doses of the stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper for the screening of sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes to assess this method as a neonatal screening strategy. MATERIALS AND METHODS: This was an observational, descriptive, comparative blind study. Thirty-two healthy young adults (17 women, 15 men; age, ≥18 years), four patients with known sex chromosome aneuploidy (positive control group), and 1000 healthy newborns were included. Gene dosages were determined using quantitative real-time polymerase chain reaction (RT-PCR). Values with standard deviations (SDs) of three or more were considered abnormal. RESULTS: Men and women differed in the gene dosage of the SRY gene. Cases with Turner syndrome showed values below 3 SDs for SHOX and VAMP7 genes, and cases with Klinefelter syndrome showed values above 3 SDs for SHOX and VAMP7 genes. Two suspected cases of sex chromosome aneuploidy were diagnosed using our neonatal screening strategy; these cases were confirmed as Turner syndrome and 47,XYY syndrome by karyotyping. CONCLUSIONS: Our data establish a basis for the determination of chromosomal sex and neonatal screening of sex chromosome aneuploidy using RT-PCR.
[Mh] Termos MeSH primário: Aneuploidia
Triagem Neonatal/métodos
Diagnóstico Pré-Natal/métodos
Aberrações dos Cromossomos Sexuais
Cromossomos Sexuais
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Feminino
Dosagem de Genes
Proteínas de Homeodomínio/sangue
Proteínas de Homeodomínio/genética
Seres Humanos
Recém-Nascido
Cariotipagem/métodos
Síndrome de Klinefelter/diagnóstico
Síndrome de Klinefelter/genética
Masculino
Gravidez
Proteínas R-SNARE/sangue
Proteínas R-SNARE/genética
Transtornos dos Cromossomos Sexuais
Proteína da Região Y Determinante do Sexo/sangue
Proteína da Região Y Determinante do Sexo/genética
Proteína de Homoeobox de Baixa Estatura
Síndrome de Turner/diagnóstico
Síndrome de Turner/genética
Cariótipo XYY
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (R-SNARE Proteins); 0 (SHOX protein, human); 0 (SRY protein, human); 0 (Sex-Determining Region Y Protein); 0 (Short Stature Homeobox Protein); 0 (VAMP7 protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161221
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2016.0101


  5 / 211 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27577224
[Au] Autor:Liu Y; Dong R; Zhang K; Wang Y; Zhang H; Zhang Y; Zhao D; Gai Z
[Ad] Endereço:Pediatric Research Institute, Institute of Pediatric Health Care, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Email: gaizhongtao@sina.com.
[Ti] Título:[Genetic analysis of a child with XYY syndrome mainly featuring mental retardation].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;33(5):686-9, 2016 Oct.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To explore the genetic cause for a boy featuring mainly with mental retardation. METHODS: G-banding karyotyping and fluorescence in situ hybridization (FISH) were carried out for the child and his parents. The child was also analyzed with chromosome microarray (CMA). Suspected microdeletion was validated with quantitative PCR. RESULTS: The proband was found to have a 47,XYY karyotype by both chromosome and FISH analyses, while both of his parents had a normal karyotype. CMA suggested that the proband had one copy of X chromosome and two copies of Y chromosome. In addition, CMA has also detected deletion of the KYNU gene (mapped at 2q22.2), which could be pathogenic. The result was confirmed by qPCR. CONCLUSION: For its high resolution, CMA can be used to identify potential microdeletion/duplications among children with chromosome aneuploidy and unusual phenotypes.
[Mh] Termos MeSH primário: Deficiência Intelectual/genética
Transtornos dos Cromossomos Sexuais/genética
Cariótipo XYY/genética
[Mh] Termos MeSH secundário: Adulto
Pré-Escolar
Bandeamento Cromossômico
Feminino
Seres Humanos
Hibridização in Situ Fluorescente
Cariotipagem
Masculino
Análise de Sequência com Séries de Oligonucleotídeos/métodos
Polimorfismo de Nucleotídeo Único
Transtornos dos Cromossomos Sexuais/diagnóstico
Cariótipo XYY/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170105
[Lr] Data última revisão:
170105
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160901
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2016.05.024


  6 / 211 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27372919
[Au] Autor:Lynch TA; Ruzzo K; Sack V; Rijhsinghani A
[Ad] Endereço:Department of Obstetrics and Gynecology, Albany Medical Center, Albany, NY, USA. Tara_Lynch@URMC.rochester.edu.
[Ti] Título:Fetal sex determination using NIPT and ultrasound as a method for diagnosing important fetal sex abnormalities.
[So] Source:Prenat Diagn;36(9):888-90, 2016 Sep.
[Is] ISSN:1097-0223
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Testes para Triagem do Soro Materno
Transtornos dos Cromossomos Sexuais/diagnóstico
Análise para Determinação do Sexo
Ultrassonografia Pré-Natal
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Gravidez
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160704
[St] Status:MEDLINE
[do] DOI:10.1002/pd.4867


  7 / 211 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27215399
[Au] Autor:Kjeldsen E
[Ad] Endereço:Hemodiagnostic Laboratory, Cancer Cytogenetics Section, Department of Hematology, Aarhus University Hospital, Tage-Hansens Gade 2, DK-8000 Aarhus C, Denmark. Electronic address: EIGIL.KJELDSEN@CLIN.AU.DK.
[Ti] Título:Oligo-based aCGH analysis reveals cryptic unbalanced der(6)t(X;6) in pediatric t(12;21)-positive acute lymphoblastic leukemia.
[So] Source:Exp Mol Pathol;101(1):38-43, 2016 Aug.
[Is] ISSN:1096-0945
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Secondary chromosomal aberrations are necessary for development of overt leukemia in t(12;21)/ETV6-RUNX1-positive acute lymphoblastic leukemia (ALL). Conventional cytogenetic analysis supplemented with locus-specific FISH analyses is gold standard to detect important clonal aberrations in this disease group. However, adequate chromosome banding analysis may often be hampered by poor chromosome morphology and banding patterns in pediatric ALL cases, which may hinder identification of possible clinical important additional chromosomal aberrations. We used oligo-based high-resolution aCGH (oaCGH) analysis as an adjunct tool to enhance conventional cytogenetic analysis in pediatric acute B-cell lymphoblastic leukemia in a prospective single center study during a 4-year period (2012-2015). In a consecutive series of 45 pediatric B-ALLs, we identified eight patients with t(12;21)/ETV6-RUNX1 fusion by FISH analysis. In three of the patients, oaCGH analysis revealed concurrent Xq duplication and 6q deletion, which was cryptic by G-banded analysis. FISH analyses with whole chromosome painting probes confirmed the imbalances and showed an unbalanced translocation der(6)t(X;6) in all three patients. A search in the literature revealed two additional pediatric patients with cryptic der(6)t(X;6) in t(12;21)-positive ALLs. No common break points on Xq or 6q could be determined between the five patients. This study highlights the importance of oaCGH analysis as an adjunct cytogenetic tool to detect cryptic chromosomal aberrations. Further, the study adds to understanding the full spectrum of secondary chromosomal aberrations in the very common t(12;21)-positive pediatric ALL disease group. We suggest that the unbalanced der(6)t(X;6), which is cryptic to conventional cytogenetics, is a non-random secondary event in this disease group. It might be that the specific combination of concurrent Xq duplication and 6q-deletion results in gain of possible oncogenes on Xq and loss of possible tumor suppressor genes on 6q that are important for the leukemic propagation of t(12;21)-positive hematopoietic cells in a subset of ALLs.
[Mh] Termos MeSH primário: Aberrações Cromossômicas
Hibridização Genômica Comparativa
Leucemia-Linfoma Linfoblástico de Células Precursoras/genética
Translocação Genética
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Bandeamento Cromossômico
Deleção Cromossômica
Cromossomos Humanos Par 6/genética
Cromossomos Humanos X/genética
Feminino
Seres Humanos
Lactente
Cariotipagem
Masculino
Aberrações dos Cromossomos Sexuais
Transtornos dos Cromossomos Sexuais/genética
Trissomia/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170529
[Lr] Data última revisão:
170529
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160525
[St] Status:MEDLINE


  8 / 211 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27180140
[Au] Autor:Yi Z; Pan H; Li L; Wu H; Wang S; Ma Y; Qi Y
[Ad] Endereço:Department of Central Laboratory, Peking University First Hospital, Beijing, China.
[Ti] Título:Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
[So] Source:Eur J Med Genet;59(6-7):347-53, 2016 Jun.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Chromosome Xq28 duplications encompassing methyl-CpG-binding protein 2 gene (MECP2) are observed most in males with a severe neurodevelopmental disorder associated with hypotonia, spasticity, severe learning disability, delayed psychomotor development, and recurrent pulmonary infections. Most female carriers are asymptomatic due to extremely or completely skewed X-inactivation. METHODS: A retrospective clinical and molecular study was conducted to examine 16 patients and two fetuses from 10 families who were identified among patients with Xq28 duplications who presented at genetic clinics. RESULTS: Of all 16 patients, 10 had a family history. Only one patient was female. All of the patients had no relevant pre-natal history. All of the patients exhibited severe psychomotor developmental delay, infantile hypotonia and recurrent infections. Some of the patients exhibited cardiac abnormalities, gastrointestinal mobility problems, hydrocele of tunica vaginalis, cryptorchidism, and autistic phenotypes. Additionally, neonatal kidney calculus, premature closure of the fontanel and pulmonary sequestration were found in the patients. Duplication sizes in these patients range from 0.21 to 14.391 Mb (most were smaller than 1 Mb), and all the duplications included host cell factor C1 (HCFC1), interleukin-1 receptor-associated kinase 1 (IRAK1), and MECP2. Bioinformatics analysis revealed that approximately half of the distal breakpoints were located within the low-copy repeats (LCRs), which may be involved in the recombination. The two fetuses were found to be healthy in the prenatal diagnosis. CONCLUSION: This is the first large cohort of patients with MECP2 duplication syndrome, including a female, reported in China. Interestingly, neonatal kidney calculus, premature closure of the fontanel and pulmonary sequestration were first reported in this syndrome. However, it was difficult to distinguish if these patients represented unique cases or if these phenotypes can be considered as part of the syndrome. The correlation between the infrequent phenotypes and duplications/genes in the duplication region needs further systematic delineation. In conclusion, our study suggested that it is important to emphasize molecular genetic analysis in patients with developmental delay/intellectual disability and recurrent infections and that it is especially important for familial female carriers to accept prenatal diagnosis.
[Mh] Termos MeSH primário: Duplicação Cromossômica/genética
Anormalidades Craniofaciais/genética
Deficiências do Desenvolvimento/genética
Doenças Genéticas Ligadas ao Cromossomo X/genética
Deficiência Intelectual/genética
Proteína 2 de Ligação a Metil-CpG/genética
Duplicações Segmentares Genômicas
Transtornos dos Cromossomos Sexuais/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
China
Hibridização Genômica Comparativa/métodos
Anormalidades Craniofaciais/fisiopatologia
Deficiências do Desenvolvimento/fisiopatologia
Facies
Feminino
Genes Duplicados
Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia
Seres Humanos
Lactente
Deficiência Intelectual/fisiopatologia
Masculino
Linhagem
Fenótipo
Transtornos dos Cromossomos Sexuais/fisiopatologia
Inativação do Cromossomo X/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MECP2 protein, human); 0 (Methyl-CpG-Binding Protein 2)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170210
[Lr] Data última revisão:
170210
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160516
[St] Status:MEDLINE


  9 / 211 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27018091
[Au] Autor:Gruchy N; Blondeel E; Le Meur N; Joly-Hélas G; Chambon P; Till M; Herbaux M; Vigouroux-Castera A; Coussement A; Lespinasse J; Amblard F; Jimenez Pocquet M; Lebel-Roy C; Carré-Pigeon F; Flori E; Mugneret F; Jaillard S; Yardin C; Harbuz R; Collonge-Rame MA; Vago P; Valduga M; Leporrier N; Vialard F
[Ad] Endereço:Service de Génétique, Laboratoire de cytogénétique prénatale, CHU Côte de Nacre, UFR de Médecine Caen, Caen, France.
[Ti] Título:Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
[So] Source:Prenat Diagn;36(6):523-9, 2016 Jun.
[Is] ISSN:1097-0223
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997. METHODS: This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. RESULTS: Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). CONCLUSION: The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd.
[Mh] Termos MeSH primário: Aborto Induzido/utilização
Aborto Espontâneo/epidemiologia
Resultado da Gravidez/epidemiologia
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/epidemiologia
Transtornos dos Cromossomos Sexuais/epidemiologia
Cariótipo XYY/epidemiologia
[Mh] Termos MeSH secundário: Aborto Induzido/tendências
Adulto
Amniocentese
Amostra da Vilosidade Coriônica
Cromossomos Humanos X
Estudos de Coortes
Feminino
Morte Fetal
França/epidemiologia
Seres Humanos
Idade Materna
Gravidez
Diagnóstico Pré-Natal
Estudos Retrospectivos
Aberrações dos Cromossomos Sexuais
Transtornos dos Cromossomos Sexuais/diagnóstico
Transtornos dos Cromossomos Sexuais/diagnóstico por imagem
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico por imagem
Trissomia/diagnóstico
Cariótipo XYY/diagnóstico
Cariótipo XYY/diagnóstico por imagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170306
[Lr] Data última revisão:
170306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160329
[St] Status:MEDLINE
[do] DOI:10.1002/pd.4817


  10 / 211 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26829740
[Au] Autor:Tu X; Zeng J; Cong X; Zhang X; Yan A
[Ad] Endereço:PLA Center for Laboratory Medicine, Fuzhou General Hospital of Nanjing Military Command, Fuzhou, Fujian 350025, China. tuxdmed@126.com.
[Ti] Título:[Cytogenetic and molecular genetic analysis of a case with mosaic marker chromosomes].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;33(1):76-80, 2016 Feb.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To explore the source of small supernumerary marker chromosome in a case. METHODS: G-banded karyotyping, fluorescence in situ hybridization, multiple sequence tagged sites (STS) of the Y chromosome, and Illumima Human Cyto SNP-12 Beadchip analysis were carried out. RESULTS: The karyotype was mos 46,X,+mar1[21]/46,X,+mar2[78]. Y chromosome STS analysis has displayed the presence of sy84, sY86, USP9Y and DDX3Y genes from the AZFa region, and sY1227 of the AZFb region, while sY1228, sY1015, sY127, sY134 from the AZFb region, and sY254 and sY255 from the AZFc region were missing. FISH analysis has verified both of the marker chromosomes to be Y chromosome fragments. Mar1 was ish.idic(Y)(q11.2)(SRY++,DXZ1+,DYZ3++,DYZ1-), while mar2 was ish.del(Y)(q11.2)(SRY+,DXZ1+,DYZ3+,DYZ1-). Single nucleotide polymorphism (SNP) microarray analysis showed that the Yq11.2-Yq12 has lost a 10.81 Mb fragment. CONCLUSION: The marker chromosomes were verified to be aberrant Y chromosomes, with the breakage and recombination occurring in Yq11.2. Mar 1 was an isodicentric Y chromosome (idic(Y)pter to q11.2::q11.2 to pter), and mar2 was del(Y)(q11.2). The karyotype was mos 46,X,ish idic(Y)(q11.2)(DYZ3++,SRY++,DXZ1+,DYZ1-)[21]/46,X,ish del(Y)(q11.2)(DYZ3+,SRY+,DXZ1+,DYZ1-)[78]. Combined FISH, Y chromosome STS analysis, SNP microarray analysis and other technologies can facilitate determination of the nature of marker chromosomes.
[Mh] Termos MeSH primário: Transtornos dos Cromossomos Sexuais/genética
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos Y/genética
Citogenética
Seres Humanos
Hibridização in Situ Fluorescente
Masculino
Polimorfismo de Nucleotídeo Único
Aberrações dos Cromossomos Sexuais
[Pt] Tipo de publicação:CASE REPORTS; ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1604
[Cu] Atualização por classe:160202
[Lr] Data última revisão:
160202
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160202
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2016.01.019



página 1 de 22 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde