A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2820-2826

  Shimojima, Keiko ^a   Imai, Katsumi ^b   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

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

Author keywords

22q11.23; Array comparative genomic hybridization (CGH); Copy number variation (CNV); Duplication; Fiber fluorescent in situ hybridization (FISH); Interchromosomal recombination; Low copy repeats 22 (LCR22); Non allelic homologous recombination (NAHR)

Indexed keywords

ANTICONVULSIVE AGENT;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; FOCAL EPILEPSY; HOMOLOGOUS RECOMBINATION; HUMAN; HYPERACTIVITY; MALE; MEIOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS;

CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GENE DOSAGE; HUMANS; HYPERKINESIS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; PREGNANCY;

EID: 78049269607     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33658     Document Type: Article

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