Differential detection of deletion 22q11.2 syndrome by specialty and indication

Pediatric and Developmental Pathology

Volumn 8, Issue 5, 2005, Pages 557-567

  Katzman, P J ^a   Wang, B ^a   Sawhney, M ^a   Wang, N ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

DiGeorge syndrome; Fluorescent in situ hybridization; Human chromosome 22; Screening; Velocardiofacial syndrome

Indexed keywords

ADOLESCENT; ADULT; CHILD; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CONTROLLED STUDY; CORRELATION ANALYSIS; CYTOGENETICS; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE PROBE; GENETIC SCREENING; HUMAN; HUMAN CELL; INFANT; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; MEDICAL SERVICE; NEWBORN; PEDIATRICS; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RETROSPECTIVE STUDY; REVIEW; SYNDROME; TELOMERE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; GENETIC SCREENING; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; LABORATORY TECHNIQUES AND PROCEDURES; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES;

EID: 27844609055     PISSN: 10935266     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10024-005-0056-1     Document Type: Review

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