How to say retraso mental In English - Translation of retraso mental to English by Nglish, on-line comprehensive Spanish – English and English – Spanish. Title, Retraso mental: definición, clasificación y sistemas de apoyo. Volume 45 of Alianza Psicología. Translated by, Cristina Jenaro. Contributors, American. NEW ENG J February 5, Number 6. Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation.
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This raises the possibility that smaller de novo genetic lesions, such as point mutations, also contribute to the retraso mental of the disorder.
Indeed, it has been estimated that one to three de novo mutations per zygote affect the amino acid sequence.
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However, the identification of such mutations in retraso mental context of nonsyndromic mental retardation is not amenable to linkage or association approaches and relies on the sequencing of candidate genes.
The classic observation that various forms of mental retardation retraso mental associated with abnormalities in the morphology of dendritic spines suggests that disruption of pathways involved in synaptic plasticity may be a common mechanism of this disorder.
Glutamate signaling through N-methyl-D-aspartate NMDA receptors on the surface of spines is necessary for the plasticity of excitatory synapses.
The NMDA receptor is linked to multiple pathways through its association with a large complex of retraso mental than proteins. In this report, we describe the results of SYNGAP1 sequence analysis and identify three de novo protein-truncating mutations in 3 of 94 patients with nonsyndromic mental retardation.
Case Report Patients and Control Subjects We recruited a series of 45 male patients and 49 female patients with sporadic nonsyndromic mental retardation, including 63 French Canadians, 6 European whites, 9 non-European whites, 2 South Americans, 6 nonwhites, and 8 patients of mixed race or ethnic background.
We used a series of open-ended questions to determine race or ethnic background by asking the parents of the patients about the origin of each of their parents. The diagnosis of mental retardation was made on a clinical basis with the use of standardized developmental or IQ tests. All patients were examined by at least one experienced clinical geneticist, who ruled out the presence retraso mental specific dysmorphic features.
For all patients, the birth weights and history of postnatal growth were within the normal range, and the head circumference was normal at birth. Mental retardation was unexplained in these patients despite standard investigations, including karyotyping, subtelomeric fluorescence in situ hybridization analysis, or comparative genomic hybridization targeting retraso mental associated with known syndromes, molecular testing for the common expansion mutation in FMR1, and computed tomography or magnetic resonance imaging of the brain.
We also studied three series of other subjects, including subjects with nonsyndromic autism spectrum disorders, subjects with schizophrenia, and healthy control subjects matched for ancestral origin. The subjects in all three series were mainly of French Canadian or European origin for details regarding case definitions, see the Supplementary Appendixavailable with the full text of this article at NEJM.
Blood samples were obtained from all subjects and from each set of parents, after we had obtained written informed consent and approval from the ethics committee at each retraso mental.
PCR assays were performed in well plates with the use of 5 ng of genomic DNA, according to standard procedures. In each case, unique mutations were confirmed by retraso mental of the fragment and resequencing of the proband and both parents with the use of reverse retraso mental forward primers.
Visita a la Escuela Especial de Retraso Mental "Sierra Maestra" - Cuba
In addition, we identified a patient Patient 3 who was heterozygous for the mutation c. Each mutation was absent in retraso mental DNA samples we obtained from the parents of the affected patients indicating retraso mental the mutations were de novo and in a control series of healthy subjects, in which all SYNGAP1 exons and intronic junctions were sequenced.
One heterozygous missense variant ITprobably a benign polymorphism, was retraso mental in patients with nonsyndromic mental retardation and control subjects alike Table 1. The various predicted functional domains are highlighted: In addition, the last amino acids of isoform 1 TADH are shown.
The hatched lines for isoforms 2 and 3 indicate that the amino acid retraso mental has been abbreviated. Panel B shows chromatograms corresponding to the SYNGAP1 sequence for each of the three patients with de novo mutations and for their parents.
Retraso mental | Spanish Translator
The three patients with the de novo mutations, whose ages ranged from 4 to 11 years, had similar clinical profiles Table 2and the Supplementary Appendix. They were all born to nonconsanguineous parents after uneventful pregnancies and deliveries. Their early development was characterized by global delay and hypotonia, with the onset of walking at the age of 2 years.
Scores on the Mullen Scales of Early Retraso mental and the Vineland Adaptive Behavior Scales showed profiles that were consistent with retraso mental mental retardation in all patients.