Deletion of 22q11 in two brothers with different phenotype

American Journal of Medical Genetics

Volumn 75, Issue 3, 1998, Pages 288-291

  Kasprzak, Lidia ^a,b   Der Kaloustian, Vazken M ^a,b   Elliott, Alison M ^a,b   Shevell, Michael ^a,b   Lejtenyi, Christine ^b   Eydoux, Patrice ^b  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

22q11; DiGeorge syndrome; Gonadal mosaicism; Microdeletion; Prenatal diagnosis

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; DIGEORGE SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC VARIABILITY; GONAD DYSFUNCTION; HUMAN; HUMAN CELL; MALE; MOSAICISM; PEDIGREE ANALYSIS; PHENOTYPE; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MOSAICISM; PHENOTYPE;

RAPHIA FRATER;

EID: 0032559315     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980123)75:3<288::AID-AJMG12>3.0.CO;2-L     Document Type: Article

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