An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment

European Journal of Medical Genetics

Volumn 55, Issue 11, 2012, Pages 650-655

  Pebrel Richard, Céline ^a   Kemeny, Stéphan ^a   Gouas, Laetitia ^a   Eymard Pierre, Eléonore ^a   Blanc, Nathalie ^b   Francannet, Christine ^b   Tchirkov, Andreï ^a   Goumy, Carole ^a   Vago, Philippe ^a  

^a UNIVERSITÉ CLERMONT AUVERGNE   (France)

^b UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

Author keywords

Atypical 22q11.2 microduplication; Low copy repeats; Psychomotor impairment

Indexed keywords

CRK LIKE PROTEIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; HUMAN; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; PALATOPHARYNGEAL INCOMPETENCE; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; SEGMENTAL DUPLICATION;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; DIGEORGE SYNDROME; GENETIC LOCI; HUMANS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PSYCHOMOTOR DISORDERS;

EID: 84867140013     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.06.014     Document Type: Article

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