We have seen three unrelated patients with the DiGeorge anomalad who also had the same deletion of chromosome 22 (pter→qll). In each, the remaining long arm material (qll→qter) was translocated to a different autosome. Our patients and a review of the literature, including a recent report of a family having four infants with the DiGeorge anomalad and the same deletion of chromosome 22 (de la Chapelle et al: Hum Genet 57:253, 1981), make a strong argument for at least some cases of the DiGeorge anomalad arising from a deletion of the pericentromeric region of chromosome 22.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health