DiGeorge syndrome (DGS) is characterized by aplasia or hypoplasia of the thymus and parathyroid glands, cardiac defects and anomaly face. This syndrome is usually associated with hypocalcemia resulting from hypoparathyroidism. In most cases the initial symptom is tetany caused by hypocalcemia within 24-48 hours after birth, with symptoms by immune abnormality appearing later. We report a woman ...

Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases which can be detected by fluorescence in situ hybridization (FISH). We evaluated the most commonly detected microdeletions for the period from June 01, 2008 to June 01, 2015 in the Federation of Bosnia and Herzegovina, including DiGeorge, Prader-Willi/Angelman, Wolf-Hirschhorn, and Williams syndromes. We report...

The following conditions and diseases that are associated with primary immunodeficiency disorder include, Combined variable immunodeficiency disease, Ataxia-telangiectasia, Chediak-Higashi syndrome, Complement deficiencies, DiGeorge syndrome, Hypogammaglobulinemia, Job syndrome, Leukocyte adhesion defects, Bruton disease, Congenital agammaglobulinemia, Selective deficiency of IgA, Wiscott-Aldri...

Objective: To identify congenital malformations of temporal bone and more particularly the inner ear in DiGeorge syndrome. Methods: We conducted a retrospective study from January 2003 to December 2011 at Rouen University Hospital. Temporal bone Computed tomography (CT) images of 13 patients with genetically confirmed DiGeorge syndrome were extracted from the database and systematically reviewe...

Obituary Dr. Angelo M. DiGeorge a world renowned physician and pediatric endocrinologist, died at age of 88 years, on October 11, 2009 of kidney failure at his home in Philadelphia. Dr. DiGeorge first gained international recognition in the mid-1960’s for his ground breaking discovery of a disorder characterized by congenital absence of the thymus and associated abnormalities. This birth defect...

RanBP1, a velocardiofacial syndrome/DiGeorge syndrome candidate gene, is expressed in the frontonasal processes, branchial arches, aortic arches, and limb buds. At these sites, RanBP1 apparently coincides with neural crest-derived mesenchymal cells. In addition, RanBP1 is expressed in the forebrain as well as in hindbrain regions previously associated with crest-derived mesenchymal cells.