DiGeorge syndrome, caused by a 22q11 microdeletion or mutation of the TBX1 gene, varies in severity greatly, even among monozygotic twins. Epigenetic phenomena have been invoked to explain phenotypic differences in individuals of identical genetic composition, although specific chromatin modifications relevant to DiGeorge syndrome are elusive. Here we show that lack of the histone acetyltransfe...

DiGeorge syndrome is associated with a T-lymphocyte immunodeficiency. The prevalence of hypogammaglobulinemia has not been reported. We found that 3% of patients with DiGeorge syndrome were receiving immunoglobulin replacement therapy and 6% of patients over the age of 3 years had hypogammaglobulinemia. We conclude that DiGeorge syndrome is associated with significant humoral immune deficiency.

Cervical origin of the right subclavian artery is rare and is associated with DiGeorge syndrome. During total thyroidectomy and right lateral neck dissection for metastatic thyroid cancer in a 26-year-old female, the right subclavian artery was found to be cervical in origin. This was identifiable on preoperative computerized tomography. Screening for DiGeorge syndrome and other cardiovascular ...

using criteria put forth by Verloes [1], patients with CHARGE syndrome show varying phenotypes that considerably overlap those of other syndromes such as Kallmann syndrome, VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb defects), and 22q11.2 deletion syndrome [3,6,7]. Chromosome 22q11.2 deletion i...

objective: 22q11.2 chromosomal region is a hot spot for many cytogenetic rearrangements especially microdeletions which are responsible for digeorge and velocardiofacial syndromes. the most characteristic sign in these patients is congenital cardiac conotruncal anomalies. the gold standard diagnostic test for these microdeletions is fish (fluorescent in situ hybridization). however this diagnos...

DiGeorge Syndrome is a genetic disorder characterized by either absence or hypoplasia of the thymus and the parathyroid glands. Patients with this syndrome also have a high incidence of cardiovascular malformations and facial dysmorphism. Structural airway anomalies have also been described, albeit infrequently. Tracheoesophageal fistula, short trachea with reduced numbers of tracheal rings, ab...

A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeor...

DiGeorge syndrome - a component of the 22q11 deletion syndrome - causes a disturbance in cervical neural crest migration that results in parathyroid hypoplasia. Patients can develop hypocalcemia-induced seizures. Spina bifida is caused by failure of neurulation, including a disturbance in the adhesion processes at the neurula stage. Spina bifida has been reported as a risk factor for epilepsy. ...