In situ hybridization probes - Molecular cytogenetics - Di Georges or velocardiofacial syndrome (VCFS)
Di George's syndrome or velocardiofacial syndrome (VCFS) is the most common known interstitial deletion in humans with an incidence of 1 in 4000 newborns.
Most deletions are the result of a de novo event although probably 5-10% are inherited. Several diagnoses have been used for this syndrome, including Di George's syndrome (DGS), face-conotronal anomaly syndrome or Takao syndrome, Shprintzen syndrome and 22q11 deletion syndrome.
This syndrome combines facial dysmorphia of varying degrees of severity, heart disease (damage to the large vessels of the heart), endocrinopathy with hypoparathyroidism and hypocalcemia, and for some patients, an immune deficiency caused by hypoplasia of the thymus causing a more or less profound drop in T cells. Cardiac malformations are present in 50-75% of patients and are usually diagnosed early in infancy. Minor manifestations are usually associated, including a history of polyhydramnios, signs of pharyngeal cycle failure, minor facial abnormalities, thin fingers, constipation and hypotonia. Delayed speech is one of the most consistent manifestations of VCFS, which is related in part to pharyngeal velocity deficiency. Recurrent ear and upper tract infections are common in early childhood. In adolescence, there is a high risk of obesity and scoliosis.
