Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 1933-1941

  Piard, Juliette ^a   Philippe, Christophe ^a   Marvier, Marie ^a   Beneteau, Claire ^a   Roth, Virginie ^a   Valduga, Mylène ^a   Béri, Mylène ^a   Bonnet, Céline ^a   Grégoire, Marie José ^a   Jonveaux, Philippe ^a   Leheup, Bruno ^a  

^a UNIVERSITY HOSPITAL OF NANCY   (France)

Author keywords

15q11 duplication; Array CGH; Semi quantitative methylation sensitive PCR; Visuo motor skills impairments

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA METHYLATION; DYSPRAXIA; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INTELLIGENCE QUOTIENT; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MOLECULAR GENETICS; MOTOR DYSFUNCTION; PENETRANCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOLOGIC ASSESSMENT; QUANTITATIVE ANALYSIS; VISUOMOTOR COORDINATION;

ADOLESCENT; ANGELMAN SYNDROME; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; DNA METHYLATION; FEMALE; GENE DUPLICATION; GENOMIC IMPRINTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRADER-WILLI SYNDROME; PSYCHOMETRICS;

EID: 77955297770     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33521     Document Type: Article

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