Asthma Allergy Immunology

Asthma Allergy Immunology

A Father and Son Diagnosed with DiGeorge Syndrome

Murat ÖZER 1, Caner AYTEKIN 2,

1 Department of Pediatric Immunology and Allergy, University of Health Sciences, Dr. Sami Ulus, Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey
2 Department of Pediatric Immunology, University of Health Sciences, Dr. Sami Ulus, Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey

DOI: 10.21911/aai.044
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DiGeorge Syndrome (DGS) is the most common of the microdeletion syndromes. Most deletions develop de-novo, while the rest are inherited in an autosomal dominant pattern. Although it is a common genetic disease, the diversity of clinical manifestations and the absence of typical clinical findings in a significant portion of the cases cause a delay in the diagnosis. In this case report, a father and son diagnosed with DGS are presented. The father`s diagnosis of DGS was made after his child was diagnosed with the same disease. With these two cases, we aimed to emphasize the importance of careful evaluation of the parents of children diagnosed with DGS for the same disease.

Keywords : 22q11.2 microdeletion, Autosomal dominant, Cardiac anomalies, DiGeorge syndrome