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Case Reports
. 1987 Apr;24(4):225-7.
doi: 10.1136/jmg.24.4.225.

Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11)

M J Faed, J Robertson, J S Beck, J I Cater, B Bose, M M Madlom
Case Reports

Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11)

M J Faed et al. J Med Genet. 1987 Apr.

Abstract

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.

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