22q11 Deletion Syndrome
Mostrando 1-12 de 48 artigos, teses e dissertações.
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1. Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome
Abstract Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be n
Int. J. Cardiovasc. Sci.. Publicado em: 2020-07
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2. Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
Resumo A Síndrome da Deleção 22q11.2 (SD22q11.2), microdeleção cromossômica mais frequente em humanos, é associada a um fenótipo neurocognitivo muito heterogêneo. Uma das principais características do espectro da síndrome é a variabilidade intelectual, que abrange de desempenho médio a deficiência intelectual, bem como discrepâncias entre Quoc
Estud. psicol. (Campinas). Publicado em: 11/11/2019
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3. Contribuições para o estabelecimento de estratégias laboratoriais em genética para a saúde pública no Brasil utilizando a síndrome de deleção 22q11.2 como modelo / Contributions to the establishment of laboratory strategies in medical genetics for public health in Brazil, using the 22q11.2 deletion syndrome as a model
The introduction of new technologies of molecular diagnosis for health care has been a challenge in the last years, especially in Brazil, where the majority of the population is served by the public health system. The 22q11.1 deletion syndrome is the most common syndrome that has palatal anomalies as a major feature, with a prevalence of 1/4000 births. Consi
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 24/02/2012
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4. A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo appare
Genetics and Molecular Biology. Publicado em: 2012
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5. Investigação de alterações na região 22q11 em indivíduos com fissura de palato / Investigation of the alterations in the region 22q11 in individuals with cleft palate
Purpose: To investigate alterations (deletions/duplications) in the 22q11 region in individuals with cleft palate aged 0-2 years, in order to perform early diagnosis of 22q11 deletion syndrome (SD22q11). Local: Genetics and Human Cytogenetics Laboratory, HRAC/USP, Bauru-SP. Methods: We selected 55 individuals with cleft palate, both genders, registered and i
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 08/12/2011
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6. Função velofaríngea em indivíduos com e sem sinais clínicos da síndrome velocardiofacial: análise videofluoroscópica / Velopharyngeal function in individuals with and without clinical signs of velocardiofacial syndrome: a videofluoroscopic analysis
Objetivos: estudar indivíduos com (G1) e sem (G2) sinais da Síndrome Velocardiofacial (SVCF) para verificar diferenças entre eles quanto à extensão e espessura velar, profundidade nasofaríngea, razão entre profundidade nasofaríngea e extensão velar (PNF/EV), tamanho da falha velofaríngea, ângulo velar, movimento do véu palatino e das paredes late
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 12/08/2011
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7. Esquizofrenia e síndrome da deleção 22q11.2: Caracterização de genes relevantes. / Schizophrenia; deletion syndrome; genes
Background: Schizophrenia is a severe, persistent, debilitating and poorly understood psychiatric disorder. It is a complex disease with heterogeneous fenotype. Among the genetic factors that might have a role in schizophrenia, it is included 22q11.2 deletion. Objectives: We aimed to investigate chromosomal abnormalities, UFD1L and ZDHHC8 polymorphisms, TBX1
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 22/02/2011
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8. Hematological abnormalities and 22q11.2 deletion syndrome
The 22q11.2 deletion syndrome (22q11DS) is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities are more frequent than previously imagined. Thus, the objective of our study was to report on a patient wit
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2011
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9. DiGeorge Syndrome: a not so rare disease
INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite
Clinics. Publicado em: 2010
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10. avaliação de pacientes com o espectro clínico da síndrome da deleção 22q11.2 através de hibridização in situ por fluorescência e da técnica multiplex ligation-dependent probe amplification / Evaluation of patients with the clinical spectrum of deletion 22q11.2 syndrome by hybridization in situ fluorescent and multiplex ligation-dependent probe amplification
Objetivo: Investigar pacientes com sinais fenotípicos da síndrome da deleção 22q11.2 quanto à presença, origem e extensão da deleção 22q11.2, bem como avaliar outras regiões genômicas relacionadas à síndrome. Ainda, correlacionar os diferentes segmentos deletados com o fenótipo dos indivíduos. Métodos: Investigação citogenética e molecular
Publicado em: 2010
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11. Caracterização do espectro fenotípico de pacientes com fissuras labiopalatinas associadas a múltiplas anomalias congênitas e alterações cromossômicas estruturais / Characterization of phenotypic spectrum in patients with cleft lip and palate associated with multiple congenital anomalies and structural chromosome abnormalities
Objective: Characterization of syndromes presented by patients with cleft lip and palate (CL/P) associated with associated with multiple congenital anomalies (MMC) and chromosomal abnormalities and expansion of the phenotyipc spectrum of syndromes already described. Setting: Human Cytogenetics Laboratory and Clinical Genetics Service, HRAC-USP, Bauru-SP. Par
Publicado em: 2009
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12. Characterization of chromosome rearrangements in patients with multiple congenital malformation and/or mental retardation (MCM/MR) / Caracterização de rearranjos cromossômicos em pacientes com malformações congênitas múltiplas e/ou retardamento mental (MCA/MR)
Two apparently "de novo" balanced translocations and one duplication of the short arm of chromosome 20 were studied. Our aim was to determine the breakpoints by chromosomal analysis through fluorescentin situ hybridization (FISH) and identify candidate genes and how they were involved with the clinical phenotypes of the patients. Patient 1 carried a duplicat
Publicado em: 2008