The association of the DiGeorge anomalad with partial monosomy of chromosome 22.
We have seen three unrelated patients with the DiGeorge anomalad who also had the same deletion of chromosome 22 (pter leads to qll). In each, the remaining long arm material (qll leads to 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.
D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic