Search results for " autistic disorder"

showing 3 items of 3 documents

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

2010

MalePediatricsmedicine.medical_specialtyAdolescentDNA Mutational AnalysisSettore MED/38 - Pediatria Generale E SpecialisticaGene DuplicationIntellectual DisabilityGene duplicationGeneticsmedicinePervasive developmental disorderHumansArray comparative genomic hybridization autistic disorder 1p duplication mental retardationChildGenetics (clinical)In Situ Hybridization FluorescenceGeneticsChromosome AberrationsComparative Genomic HybridizationModels Geneticbusiness.industryChromosomemedicine.diseaseDevelopmental disorderMental deficiencyPhenotypeAutism spectrum disorderChild Development Disorders PervasiveChromosomes Human Pair 1MutationAutismbusinessComparative genomic hybridization
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

2019

Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with thei…

MaleParents0301 basic medicineProbandNeuronalGenetic Carrier Screening16p11.2 deletion030105 genetics & heredityCognitionFamily historyNeural Cell Adhesion MoleculesGenetics (clinical)Exome sequencingSequence DeletionGeneticsGenetic Carrier ScreeningPhenotypePenetrancePedigreePhenotypeAutistic Disorder/genetics; Autistic Disorder/physiopathology; Cell Adhesion Molecules Neuronal/genetics; Chromosomes Human Pair 16/genetics; Cognition/physiology; DNA Copy Number Variations/genetics; Female; Gene Expression Regulation/genetics; Genetic Background; Genetic Carrier Screening; Humans; Male; Methyltransferases/genetics; Nerve Tissue Proteins/genetics; Parents; Pedigree; Phenotype; Proteins/genetics; Sequence Deletion/genetics; Siblings; 16p11.2 deletion; CNV; autism; modifier; phenotypic variabilityFemaleGenetic BackgroundHumanDNA Copy Number VariationsCell Adhesion Molecules NeuronalCNVautismNerve Tissue ProteinsBiologyChromosomesArticle03 medical and health sciencesmental disordersmedicineHumansAutistic DisorderBiologyGenemodifierPair 16SiblingsCalcium-Binding ProteinsProteinsMethyltransferasesmedicine.disease16p11.2 deletion; autism; CNV; modifier; phenotypic variability; Genetics (clinical)Cytoskeletal Proteins030104 developmental biologyGene Expression Regulation[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAutismphenotypic variabilityHuman medicine16p11.2 deletion; autism; CNV; modifier; phenotypic variability; Autistic Disorder; Cell Adhesion Molecules Neuronal; Chromosomes Human Pair 16; Cognition; DNA Copy Number Variations; Female; Gene Expression Regulation; Genetic Background; Humans; Male; Methyltransferases; Nerve Tissue Proteins; Parents; Pedigree; Phenotype; Proteins; Sequence Deletion; Siblings; Genetic Carrier ScreeningCell Adhesion MoleculesChromosomes Human Pair 16Transcription FactorsGenetics in Medicine
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Scurvy as an alarm bell of autistic spectrum disorder in the first world: A case report of a 3-year-old girl

2021

Patient: Female, 3-year-old Final Diagnosis: Scurvy and autistic spectrum disorder Symptoms: Bleeding gums • pain • petechia Medication: — Clinical Procedure: Haematochemical blood examinations • radiographic study Specialty: Endocrinology and Metabolic Objective: Rare disease Background: Scurvy secondary to deficiency of vitamin C is a rare condition in children. The polymorphism of clinical signs and symptoms makes scurvy diagnosis a challenge for the pediatrician. Case Report: A 3-year-old girl came to our observation because she refused to walk and to stand, she showed petechiae, follicular hyperkeratosis on the limbs, and bleeding gums. After a physical exam, laboratory tests, and X-ra…

Pediatricsmedicine.medical_specialtyAutism Spectrum Disordermedia_common.quotation_subjectEye contactAscorbic AcidWalkingDiseaseAscorbic acid deficiency Autistic disorder Scurvy Ascorbic Acid Child Preschool Female Humans Vitamins Walking Autism Spectrum DisorderLaughtermedicineHumansGirlAutistic DisorderAscorbic Acid Deficiencymedia_commonbusiness.industryIncidence (epidemiology)ArticlesVitaminsGeneral MedicineScurvymedicine.diseaseAutism spectrum disorderChild PreschoolAscorbic Acid DeficiencyFemaleScurvybusiness
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