Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

European Journal of Human Genetics

Volumn 13, Issue 10, 2005, Pages 1131-1136

  Barber, John C K ^a,b   Maloney, Viv ^a   Hollox, Edward J ^c   Stuke Sontheimer, Annegret ^d   du Bois, Gabi ^e   Daumiller, Eva ^e   Klein Vogler, Ute ^f   Dufke, Andreas ^f   Armour, John A L ^c   Liehr, Thomas ^g  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^d Genetics Clinic   (Germany)

^e Institute for Chromosome Diagnostics and Genetic Counselling   (Germany)

^f UNIVERSITY OF TÜBINGEN   (Germany)

^g FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

8p23.1; Copy number variation; Duplication; GATA4; Triplication

Indexed keywords

DEFENSIN; TRANSCRIPTION FACTOR GATA 4;

ADULT; ARTICLE; CHROMOSOME 8P; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CYTOGENETICS; DISEASE SEVERITY; FATHER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; HEART DISEASE; HUMAN; LANGUAGE DISABILITY; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PULMONARY VALVE STENOSIS; QUANTITATIVE ANALYSIS; QUANTITATIVE TRAIT; SCHOOL CHILD;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 8; DEFENSINS; DNA-BINDING PROTEINS; FEMALE; GATA4 TRANSCRIPTION FACTOR; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; LANGUAGE DEVELOPMENT DISORDERS; MALE; NUCLEIC ACID HYBRIDIZATION; POLYMERASE CHAIN REACTION; PULMONARY VALVE STENOSIS; TRANSCRIPTION FACTORS;

EID: 27144474963     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201475     Document Type: Article

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