Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

European Journal of Medical Genetics

Volumn 51, Issue 3, 2008, Pages 226-230

  Nogueira, Sintia Iole ^a   Hacker, April M ^b,c   Bellucco, Fernanda T S ^a   Christofolini, Denise M ^a   Kulikowski, Leslie Domenici ^a   Cernach, Mirlene C S P ^a   Emanuel, Beverly S ^b,c   Melaragno, Maria Isabel ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

22q11.2 Deletion; Atypical deletion; FISH

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; SCHOOL CHILD;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE;

EID: 43049168935     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.02.001     Document Type: Article

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