4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

European Journal of Pediatrics

Volumn 170, Issue 11, 2011, Pages 1465-1470

  Cuturilo, Goran ^a,b   Menten, Björn ^c   Krstic, Aleksandar ^d   Drakulic, Danijela ^d   Jovanovic, Ida ^a,b   Parezanovic, Vojislav ^a,b   Stevanovic, Milena ^d  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b UNIVERSITY CHILDREN S HOSPITAL   (Serbia)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF BELGRADE   (Serbia)

Author keywords

22q11.2 deletion syndrome; 4q34.1 q35.2 deletion; Array CGH; MLPA

Indexed keywords

AORTA ARCH ANOMALY; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 22Q11; CHROMOSOME DELETION 4; CLINICAL FEATURE; COPY NUMBER VARIATION; FACE DYSMORPHIA; FALLOT TETRALOGY; FINGER MALFORMATION; GENETIC COUNSELING; HUMAN; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

22Q11 DELETION SYNDROME; AORTA, THORACIC; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; FACE; HUMANS; INFANT; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; SERBIA; TETRALOGY OF FALLOT;

EID: 82655173964     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-011-1533-3     Document Type: Article

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