scholarly journals Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)

2010 ◽  
Vol 18 (9) ◽  
pp. 1071-1071 ◽  
Author(s):  
Eberhard Schwinger ◽  
Koen Devriendt ◽  
Anita Rauch ◽  
Nicole Philip
Keyword(s):  
Clinical Utility ◽  
Digeorge Syndrome ◽  
22Q11.2 Deletion Syndrome ◽  
Velocardiofacial Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
Chromosome 22Q11.2 Deletion Syndrome

scholarly journals Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

2010 ◽  
Vol 136 (3) ◽  
pp. 409-418 ◽  
Author(s):  
R. Zemble ◽  
E. Luning Prak ◽  
K. McDonald ◽  
D. McDonald-McGinn ◽  
E. Zackai ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
22Q11.2 Deletion Syndrome ◽  
Velocardiofacial Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
Chromosome 22Q11.2 Deletion Syndrome

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

2006 ◽  
Vol 140A (8) ◽  
pp. 906-909 ◽  
Author(s):  
Donna M. McDonald-McGinn ◽  
Anne Reilly ◽  
Carina Wallgren-Pettersson ◽  
H. Eugene Hoyme ◽  
Samuel P. Yang ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
22Q11.2 Deletion Syndrome ◽  
Velocardiofacial Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
Chromosome 22Q11.2 Deletion Syndrome

scholarly journals Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

1998 ◽  
Vol 5 (3) ◽  
pp. 415-417 ◽  
Author(s):  
Christopher A. Smith ◽  
Deborah A. Driscoll ◽  
Beverly S. Emanuel ◽  
Donna M. McDonald-McGinn ◽  
Elaine H. Zackai ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Immunoglobulin A ◽  
22Q11.2 Deletion Syndrome ◽  
Velocardiofacial Syndrome ◽  
Iga Deficiency ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
Cellular Immunodeficiency ◽  
Chromosome 22Q11.2 Deletion Syndrome

ABSTRACT We wished to determine the prevalence of immunoglobulin A (IgA) deficiency in patients with the chromosome 22q11.2 deletion syndrome. A total of 32 patients with the chromosome 22q11.2 deletion were examined for IgA deficiency. We report a 13% (n = 4) prevalence of IgA deficiency in patients with this syndrome. The odds ratio of IgA deficiency in this population is 14.20 (P< 0.0001). This confirms the occurrence of significant humoral deficits in this predominantly cellular immunodeficiency.

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