Unmasking Kabuki syndrome: Chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH

Clinical Genetics

Volumn 64, Issue 6, 2003, Pages 509-516

  Milunsky, Jeff M ^a   Huang, X L ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

CGH; Duplication; Genomic disorder; Kabuki; MCA MR syndrome

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHROMOSOME 8P; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROZYGOSITY; HUMAN; KABUKI MAKEUP SYNDROME; MALE; MICROSCOPY; MOTHER; PARENT; PRIORITY JOURNAL; RACE DIFFERENCE;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 8; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE;

BACTERIA (MICROORGANISMS);

EID: 0344308337     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1399-0004.2003.00189.x     Document Type: Article

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