Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases

European Journal of Medical Genetics

Volumn 57, Issue 1, 2014, Pages 5-14

  Al Ageeli, Essam ^a,b   Drunat, Séverine ^a   Delanoë, Catherine ^a   Perrin, Laurence ^a   Baumann, Clarisse ^a   Capri, Yline ^a   Fabre Teste, Jennifer ^a   Aboura, Azzedine ^a   Dupont, Céline ^a   Auvin, Stéphane ^a   El Khattabi, Laila ^a   Chantereau, Dominique ^a   Moncla, Anne ^c   Tabet, Anne Claude ^a   Verloes, Alain ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b JAZAN UNIVERSITY   (Saudi Arabia)

^c TIMONE HOSPITAL   (France)

Author keywords

Autism; Developmental delay; EEG; Invdup(15); Parental origin; Seizure

Indexed keywords

BENZODIAZEPINE;

ADOLESCENT; ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BEHAVIOR DISORDER; CAFE AU LAIT SPOT; CARDIOMYOPATHY; CHILD; CHROMOSOME 13Q; CHROMOSOME 15Q; CHROMOSOME 15Q11; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CRYPTORCHISM; DNA MICROARRAY; ELECTROENCEPHALOGRAM; FACE DYSMORPHIA; FACE MALFORMATION; FEMALE; GENETIC MARKER; HUMAN; HYPOPIGMENTATION; INFANT; LEARNING DISORDER; MACROCEPHALY; MALE; MICROCEPHALY; MICROPENIS; OBESITY; PHENOTYPE; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SCHOOL CHILD; SEIZURE; SHORT STATURE; SPEECH DELAY; YOUNG ADULT;

AUTISM; DEVELOPMENTAL DELAY; EEG; INVDUP(15); PARENTAL ORIGIN; SEIZURE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84892532406     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.10.008     Document Type: Article

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