A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9

Genomics

Volumn 85, Issue 5, 2005, Pages 622-629

  Boyadjiev, Simeon A ^a   South, Sarah T ^a   Radford, Cristi L ^a   Patel, Ankita ^b   Zhang, George ^a   Hur, David J ^a   Thomas, George H ^a,c   Gearhart, John P ^a   Stetten, Gail ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Bladder exstrophy epispadias complex; Chromosome 9; Contactin associated protein like 3 (CNTNAP3); Translocation breakpoint mapping

Indexed keywords

CONTACTIN; CONTACTIN ASSOCIATED PROTEIN LIKE 3; RNA; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ARTICLE; BLADDER EXSTROPHY; CENTROMERE; CHROMOSOME 8P; CHROMOSOME 9Q; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CONTROLLED STUDY; DNA POLYMORPHISM; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE EXPRESSION; GENETIC TRANSCRIPTION; HETEROCHROMATIN; HUMAN; HUMAN CELL; HUMAN TISSUE; LYMPHOBLAST; MALE; MOLECULAR CLONING; MOLECULAR EVOLUTION; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PARENT; PERICENTRIC CHROMOSOME INVERSION; PREDICTION; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SCHOOL CHILD;

EID: 16244410158     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ygeno.2005.01.002     Document Type: Article

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