Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).
A child with an unbalanced translocation resulting in monosomy for chromosomes 22 (q11----pter) and 3(p25----pter) is described. Although no immunological dysfunction could be demonstrated, the abnormalities found are similar to those seen in the di George syndrome which has been associated with monosomy for the same region of chromosome 22.
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002893:Chromosomes, Human, Pair 3; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007231:Infant, Newborn; D014178:Translocation, Genetic