5q11.2 deletion in a patient with tracheal agenesis

European Journal of Human Genetics

Volumn 18, Issue 11, 2010, Pages 1265-1268

  De Jong, Elisabeth M ^a,b   Douben, Hannie ^a   Eussen, Bert H ^a   Felix, Janine F ^b   Wessels, Marja W ^a   Poddighe, Pino J ^a   Nikkels, Peter G J ^c   De Krijger, Ronald R ^a   Tibboel, Dick ^b   De Klein, Annelies ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

5q11; array comparative genomic hybridization; deletion; TACRD; tracheal agenesis; VACTERL

Indexed keywords

ARTICLE; CARDIOVASCULAR MALFORMATION; CHROMOSOME 16P; CHROMOSOME 16P12.1; CHROMOSOME 5Q; CHROMOSOME 5Q11.2; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; DNA MICROARRAY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HUMAN; MALE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESPIRATORY TRACT DISEASE; TRACHEA AGENESIS; VERTEBRA MALFORMATION;

CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; FATAL OUTCOME; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; TRACHEA;

EID: 77958476031     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.84     Document Type: Article

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