Interstitial Duplication of 2q32.1-q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 1078-1084

  Usui, Daisuke ^a   Shimada, Shino ^b   Shimojima, Keiko ^b   Sugawara, Midori ^b   Kawasaki, Hajime ^c   Shigematu, Hideo ^a   Takahashi, Yukitoshi ^a   Inoue, Yushi ^a   Imai, Katsumi ^a   Yamamoto, Toshiyuki ^b  

^a SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c Kuwana East Medical Center   (Japan)

Author keywords

2q32 q33 duplication; Autistic behavior; Epilepsy; Psychomotor developmental delay; SATB2

Indexed keywords

CARBAMAZEPINE; HOMEODOMAIN PROTEIN; METALLOPROTEINASE; POTASSIUM CHANNEL;

ADAM METALLOPEPTIDASE DOMAIN 23 GENE; ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COMPLEX PARTIAL SEIZURE; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DISEASE CONTROL; DRUG EFFECT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; MALE; MICROARRAY ANALYSIS; NERVE PROJECTION; PHENOTYPE; POTASSIUM CHANNEL TETRAMERISATION DOMAIN CONTAINING 18 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SATB HOMEOBOX 2 GENE;

AUTISTIC DISORDER; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; DIAGNOSIS, DIFFERENTIAL; EPILEPSY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; MATRIX ATTACHMENT REGION BINDING PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TRANSCRIPTION FACTORS; TRISOMY;

EID: 84876784420     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35679     Document Type: Article

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