Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder

American Journal of Medical Genetics, Part A

Volumn 167, Issue 12, 2015, Pages 3031-3037

  Schneider, Anouck ^a   Puechberty, Jacques ^a   Ng, Bee Ling ^b   Coubes, Christine ^a   Gatinois, Vincent ^a   Tournaire, Magali ^a   Girard, Manon ^a   Dumont, Bruno ^a   Bouret, Pauline ^a   Magnetto, Julia ^a   Baghdadli, Amaria ^a   Pellestor, Franck ^a   Geneviève, David ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

Array painting; AUTS2; Balanced translocation; Intellectual disability

Indexed keywords

ARTICLE; AUTISM; AUTS2 GENE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CYTOGENETICS; EPHA6 GENE; FACIES; GENE; GENE TRANSLOCATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC SUSCEPTIBILITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DISEASE; MICROARRAY ANALYSIS; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; CHROMOSOME 3; CHROMOSOME 7; CHROMOSOME PAINTING; FEMALE; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PREGNANCY; PROCEDURES;

AUTS2 PROTEIN, HUMAN; EPHRIN RECEPTOR A6; PROTEIN;

BASE SEQUENCE; CHILD; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; NEURODEVELOPMENTAL DISORDERS; PREGNANCY; PROTEINS; RECEPTOR, EPHA6; TRANSLOCATION, GENETIC;

EID: 84959352267     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37350     Document Type: Article

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