West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2584-2588

  Tohyama, Jun ^a,b   Yamamoto, Toshiyuki ^c   Hosoki, Kana ^d   Nagasaki, Keisuke ^b   Akasaka, Noriyuki ^a   Ohashi, Tsukasa ^a   Kobayashi, Yu ^a   Saitoh, Shinji ^d  

^a NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^b NIIGATA UNIVERSITY MEDICAL AND DENTAL HOSPITAL   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Chromosome 14; FOXG1; Maternal uniparental disomy; Mosaic duplication; Supernumerary marker chromosome; West syndrome

Indexed keywords

CLOBAZAM; CORTICOTROPIN; DNA; GROWTH HORMONE; VALPROIC ACID; ZONISAMIDE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME G BAND; CHROMOSOME MARKER; CHROMOSOME MOSAICISM; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA METHYLATION; ELECTROENCEPHALOGRAM; EXTRACHROMOSOMAL INHERITANCE; FATHER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOXG1 GENE; GENE; GENE DOSAGE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; INFANTILE SPASM; INTELLIGENCE QUOTIENT; KARYOTYPE 46,XX; MEG3 GENE; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MOSAIC DUPLICATION; MUSCLE HYPOTONIA; OPTIMAL DRUG DOSE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEIZURE; SHORT STATURE; SPECTRAL KARYOTYPING; SUPERNUMERARY CHROMOSOME; UNIPARENTAL DISOMY; VOMITING; WEST SYNDROME;

CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MICROSATELLITE REPEATS; MOSAICISM; NERVE TISSUE PROTEINS; SPASMS, INFANTILE; UNIPARENTAL DISOMY;

EID: 80053094607     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34224     Document Type: Article

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