Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)

American Journal of Medical Genetics

Volumn 86, Issue 1, 1999, Pages 27-33

  McQuade, Leon ^a   Christodoulou, John ^a,b   Budarf, Marcia ^c   Sachdev, Rani ^a   Wilson, Meredith ^a   Emanuel, Beverly ^c   Colley, Alison ^a,d  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d Liverpool Health Services ^*  (Australia)

Author keywords

22q11 deletion syndrome; COMT; FISH; MDGCR; Microsatellites; TBX1

Indexed keywords

CATECHOL METHYLTRANSFERASE; DNA;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CYTOGENETICS; DIGEORGE SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HAPLOTYPE; HUMAN; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TANDEM REPEAT; VELOCARDIOFACIAL SYNDROME;

ADULT; CATECHOL O-METHYLTRANSFERASE; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; DIGEORGE SYNDROME; DNA-BINDING PROTEINS; FEMALE; GENE DELETION; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; NUCLEAR FAMILY; PHENOTYPE; PHYSICAL CHROMOSOME MAPPING; SYNDROME; T-BOX DOMAIN PROTEINS; TANDEM REPEAT SEQUENCES; TRANSCRIPTION FACTORS;

EID: 0032769144     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990903)86:1<27::AID-AJMG6>3.0.CO;2-7     Document Type: Article

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