Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications

American Journal of Medical Genetics, Part A

Volumn 164, Issue 2, 2014, Pages 535-541

  Batanian, Jacqueline R ^a   Braddock, Stephen R ^a   Christensen, Katherine ^a   Knutsen, Alan P ^a  

^a S LOUIS UNIV HLTH SCIENCES CENTER   (United States)

Author keywords

16p11.2 duplication; 20p12.2 11.23 duplication; Combined immunodeficiency; Congenital heart disease; Partial trisomy 20p syndrome

Indexed keywords

ALLOANTIGEN; CD45RO ANTIGEN; CONCANAVALIN A; COTRIFAMOLE; IMMUNOGLOBULIN; PHYTOHEMAGGLUTININ; POKEWEED MITOGEN;

ARTICLE; ATP2A1 GENE; ATXN2L GENE; BFSP1 GENE; C20ORF7 GENE; CAMPTODACTYLY; CASE REPORT; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CHILD; CHROMOSOME 16P; CHROMOSOME 20P; CHROMOSOME DUPLICATION; COMBINED IMMUNODEFICIENCY; COMPARATIVE GENOMIC HYBRIDIZATION; DNA DETERMINATION; DNA FLANKING REGION; DSTN GENE; FACE MALFORMATION; FALLOT TETRALOGY; FLRT3 GENE; GENE; GENETIC ASSOCIATION; GROWTH DISORDER; HAIR DISEASE; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART SURGERY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; IMMUNOLOGICAL MONITORING; INFECTION; LANGUAGE DELAY; LYMPHOCYTE COUNT; MACROD2 GENE; MALE; MICROCEPHALY; MOTOR DYSFUNCTION; NATURAL KILLER CELL MEDIATED CYTOTOXICITY; NOSE MALFORMATION; OTOR 1 GENE; PCSK2 GENE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RABEP2 GENE; RRBP1 GENE; SH2B1 GEE; SNRPB2 GENE; SPTLC3 GENE; TASP1 GENE; TUFM GENE;

16P11.2 DUPLICATION; 20P12.2-11.23 DUPLICATION; COMBINED IMMUNODEFICIENCY; CONGENITAL HEART DISEASE; PARTIAL TRISOMY 20P SYNDROME;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 20; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; HUMANS; MALE; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84892875778     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36305     Document Type: Article

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