scholarly journals CASE REPORT : PARTIAL DIGEORGE SYNDROME PRESENTING IN ADULTHOOD

2020 ◽  
pp. 1-2
Author(s):  
Raghav R Nagpal ◽  
Mitesh Thakkar ◽  
Jaishree Ghanekar
Keyword(s):  
Digeorge Syndrome ◽  
Congenital Heart ◽  
Strong Predictor ◽  
Velocardiofacial Syndrome ◽  
Microdeletion Syndrome ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
Catch 22 ◽  
Adult Presentation ◽  
Variable Penetrance

Digeorge syndrome is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations and variable penetrance. Only a few cases of adult presentation of Digeorge Syndrome have been described in the literature. It is also known as velocardiofacial syndrome or CATCH 22 syndrome. Classically abnormal facies, congenital heart disease , thymus dysplasia, cleft palate , hypocalcemia due to hypoparathyroidism are seen. Hypocalcemia is a strong predictor of digeorge syndrome whenever associated with other clinical features. Patients with chromosome 22q11.2 deletion do not always show all components of DGS. Hypoparathyroidism can be the only abnormality and may exist with no accompanying cardiac or immunologic defects. Here we report a case of 28 year old man presenting in adulthood with hypocalcemia induced tetany and diagnosed as having partial Digeorge 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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