De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5′ end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations

European Journal of Human Genetics

Volumn 15, Issue 5, 2007, Pages 570-577

  Yue, Ying ^a   Farcas, Ruxandra ^a   Thiel, Gundula ^b   Bommer, Christiane ^c   Grossmann, Bärbel ^a   Galetzka, Danuta ^a   Kelbova, Christina ^d   Küpferling, Peter ^d   Daser, Angelika ^a   Zechner, Ulrich ^a   Haaf, Thomas ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b Practice of Human Genetics   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d Practice of Human Genetics   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT; HOMEODOMAIN PROTEIN; REPETITIVE DNA;

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 12; CHROMOSOME 17Q; CHROMOSOME TRANSLOCATION 12; CHROMOSOME TRANSLOCATION 17; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; FUNNEL CHEST; GENE CLUSTER; GENE FUNCTION; GENE SEQUENCE; HUMAN; HUMAN GENOME; MALE; MENTAL DEFICIENCY; POLYDACTYLY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETON MALFORMATION;

CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 17; DEVELOPMENTAL DISABILITIES; GENES, HOMEOBOX; HUMANS; MALE; MUSCULOSKELETAL ABNORMALITIES; TRANSLOCATION, GENETIC;

EID: 34247579716     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201795     Document Type: Article

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