Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication - Piard, Juliette; Philippe, Christophe; Marvier, Marie; Beneteau, Claire; Roth, Virginie; Valduga, Mylène; Béri, Mylène; Bonnet, Céline; Grégoire, Marie-José; Jonveaux, Philippe; Leheup, Bruno (American journal of medical genetics. Part A, 2010)
Keywords: 15q11 duplication; Adolescent; Angelman Syndrome - genetics; Angelman Syndrome - pathology; Angelman Syndrome - psychology; array-CGH; Autism; Autistic Disorder - genetics; Autistic Disorder - pathology; Autistic Disorder - psychology; Biological and medical sciences; Breakpoints; Child; Child, Preschool; chromosome 15; Chromosomes, Human, Pair 15 - genetics; Comparative Genomic Hybridization; DNA Methylation; Female; Fluorescence in situ hybridization; Gene Duplication; Genetic markers; Genomic Imprinting; genomics; Humans; Hybridization analysis; In Situ Hybridization, Fluorescence; Infant; Intellectual Disability - genetics; Intellectual Disability - pathology; Intellectual Disability - psychology; Intelligence; Male; Medical genetics; Medical sciences; Mental retardation; Microsatellites; Motor skill; Oligonucleotide Array Sequence Analysis; Pedigree; Phenotype; Polymerase Chain Reaction; Prader-Willi Syndrome - genetics; Prader-Willi Syndrome - pathology; Prader-Willi Syndrome - psychology; Psychometrics; semi-quantitative methylation-sensitive PCR; visuo-motor skills impairments; Chromosomal aberration; Family study; array-CGH; Characterization; Polymerase chain reaction; visuo-motor skills impairments; 15q11 duplication; semi-quantitative methylation-sensitive PCR; Abnormal chromosome; Vocational aptitude; Interstitial; Molecular biology; Chromosome duplication; Methylation; Quantitative analysis