0000000000055522

AUTHOR

Giovanna Gambino

showing 2 related works from this author

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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Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocat…

2006

Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displays several dysmorphic features. Further FISH analyses revealed that the trisomy was caused by the translocation of a 13q subtelomeric fragment to the acrocentric tip of one chromosome 21 [46,XY.ish der(21) t(13;21) (q34;p13)(D13S1825+)]. Gene dosage experiments carried out with three multiallelic polymorphisms of the subtelomeric region of chromosome 13q showed that the putative length of the tr…

AdultMaleDerivative chromosomeAdolescentGene DosageautismChromosomal translocationTrisomyBiologyGene dosagePolymerase Chain ReactionTranslocation GeneticCellular and Molecular NeurosciencemedicineHumansAutistic DisorderChildGenetics (clinical)In Situ Hybridization FluorescenceChromosome 13GeneticsChromosomes Human Pair 13ChromosomeTelomereSubtelomeremedicine.diseasePsychiatry and Mental healthfrontal bossingFemaleTrisomyChromosome 21American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
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