FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities

Pediatric Surgery International

Volumn 22, Issue 4, 2006, Pages 380-383

  Yakut, Tahsin ^a   Kilic, Sara Sebnem ^a   Cil, Ergun ^a   Yapici, Esra ^a   Egeli, Unal ^a  

^a ULUDAG UNIVERSITY   (Turkey)

Author keywords

Chromosome 22q11.2; DiGeorge syndrome; FISH (Fluorescent in situ hybridization); Hypocalcemia; Immunodeficiency; VCFS

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; EARLY DIAGNOSIS; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HEART DISEASE; HIGH RISK PATIENT; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; IMMUNE DEFICIENCY; INFANT; MALE; NEWBORN; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; DIAGNOSIS, DIFFERENTIAL; DIGEORGE SYNDROME; FEMALE; GENE DELETION; HEART DISEASES; HUMANS; IMMUNE SYSTEM DISEASES; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; PROSPECTIVE STUDIES;

EID: 33645412998     PISSN: 01790358     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00383-006-1641-8     Document Type: Article

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