Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3057-3067

  Yamada, Kenichiro ^a   Fukushi, Daisuke ^a   Ono, Takao ^a   Kondo, Yoko ^a,b   Kimura, Reiko ^a   Nomura, Noriko ^a   Kosaki, Ken jiro ^c   Yamada, Yasukazu ^a   Mizuno, Seiji ^a   Wakamatsu, Nobuaki ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c KEIO UNIVERSITY   (Japan)

Author keywords

Brachydactyly; CHD6; CHD7; Chromatin assembly; Chromosome 20; Chromosome alignment; Mental retardation; Translocation

Indexed keywords

BINDING PROTEIN; CHROMODOMAIN HELICASE DNA; CHROMODOMAIN HELICASE DNA 6; CHROMODOMAIN HELICASE DNA 7; UNCLASSIFIED DRUG;

ADOLESCENT; ANEUPLOIDY; ANIMAL TISSUE; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; DENATURATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EXPRESSION VECTOR; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENE TRANSLOCATION; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; KARYOTYPE; LYMPHOBLASTOID CELL; MENTAL DEFICIENCY; MOUSE; NONHUMAN; NORTHERN BLOTTING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA INTERFERENCE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; TISSUE DISTRIBUTION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BLOTTING, NORTHERN; CHROMOSOMES, HUMAN, PAIR 20; CHROMOSOMES, HUMAN, PAIR 4; DNA, INTERGENIC; FEMALE; GENE KNOCKDOWN TECHNIQUES; HELA CELLS; HUMANS; MALE; MENTAL RETARDATION; RNA INTERFERENCE; RNA, MESSENGER; TRANSLOCATION, GENETIC;

EID: 78649672494     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33174     Document Type: Article

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