Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

American Journal of Medical Genetics

Volumn 78, Issue 4, 1998, Pages 322-331

  Rauch, Anita ^a,b   Hofbeck, Michael ^a   Leipold, Georg ^a   Klinge, Jens ^a   Trautmann, Udo ^a   Kirsch, Michaela ^a   Singer, Helmut ^a   Pfeiffer, Rudolf A ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

22q11 deletion; Congenital heart disease; DiGeorge syndrome; Interrupted aortic arch; Sibs

Indexed keywords

AORTA ARCH INTERRUPTION; ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DIGEORGE SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HEMIZYGOSITY; HUMAN; HYPOPARATHYROIDISM; INFANT; MALE; MORTALITY; NEWBORN; PRIORITY JOURNAL; RECURRENT DISEASE; T LYMPHOCYTE; TANDEM REPEAT; TURNER SYNDROME;

AORTA, THORACIC; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; GENETIC SCREENING; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MINISATELLITE REPEATS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 0031904346     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980724)78:4<322::AID-AJMG4>3.0.CO;2-N     Document Type: Article

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