Syndrome with IgA Deficiency

Autosomal deletion syndromes are of great interest since measurable loss of genetic material could lead to the mapping of the human autosomes. Short arm deletions and long arm deletions of chromosome 18 have been described in association with phenotypic changes (Grouchy et al., 1963, 1964) and reviewed recently by Wolf et al. (1967) and Reinwein, Ritter, and Wolf (1967). Since a ring chromosome presumably has double deficiencies resulting from the loss of the distal part of both arms, it was considered significant that a 15year-old female with a ring-18 chromosome was deficient in the immunoglobulin IgA in serum and saliva (Finley et al., 1968). In this report, we present detailed analysis of this patient and discuss some of the genetic implications of the association of chromosome 18 deletions and IgA deficiency.