A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies

European Journal of Medical Genetics

Volumn 53, Issue 5, 2010, Pages 325-328

  Caselli, Rossella ^a   Ballarati, Lucia ^a   Selicorni, Angelo ^b   Milani, Donatella ^b   Maitz, Silvia ^b   Valtorta, Chiara ^a   Larizza, Lidia ^a,c   Giardino, Daniela ^a  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

17q; Array CGH; Interstitial duplication; Psychomotor and speech delay

Indexed keywords

NEUROFIBROMIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17Q; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; DIABETES MELLITUS; FACE MALFORMATION; GENE DELETION; HUMAN; KIDNEY CYST; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER;

CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; MENTAL RETARDATION; MUSCLE HYPOTONIA; NEUROFIBROMATOSIS 1; PSYCHOMOTOR DISORDERS;

EID: 77956910138     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.05.004     Document Type: Article

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