De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity

European Journal of Human Genetics

Volumn 20, Issue 11, 2012, Pages 1197-1200

  Vengoechea, Jaime ^a,b   Parikh, Aditi S ^a,b   Zhang, Shulin ^a,b   Tassone, Flora ^c,d  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

copy number variation; developmental delay; epilepsy; fragile X; hyperactivity; microduplication

Indexed keywords

AMINO ACID; COMPLEMENTARY RNA; ETIRACETAM; FRAGILE X MENTAL RETARDATION PROTEIN; LACTIC ACID; PYRUVIC ACID;

ABSENCE SEIZURE; AGGRESSIVENESS; AMINO ACID BLOOD LEVEL; APRAXIA; ARTICLE; BREATH HOLDING; CASE REPORT; CHILD; CHROMOSOME XQ; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; ELECTROENCEPHALOGRAM; FALLING; FOCAL EPILEPSY; FOLLOW UP; FRAGILE X SYNDROME; GENE DOSAGE; GENE DUPLICATION; HUMAN; HYPERACTIVITY; LACTATE BLOOD LEVEL; LANGUAGE DISABILITY; MALE; MOLECULAR DIAGNOSIS; MUSCLE TWITCH; MYOCLONUS SEIZURE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEIZURE; SOUTHERN BLOTTING; SPEECH THERAPY;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 4; DEVELOPMENTAL DISABILITIES; EPILEPSY; FRAGILE X MENTAL RETARDATION PROTEIN; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; HUMANS; HYPERKINESIS; MALE; SYNDROME;

EID: 84867743191     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.78     Document Type: Article

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