Immunological profile in a chromosome 18 deletion syndrome with IgA deficiency.

Autosomal deletion syndromes are of great in- terest 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 defici- encies resulting from the loss of the distal part of both arms, it was considered significant that a 15- year-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 pre- sent detailed analysis of this patient and discuss some of the genetic implications of the association of chromosome 18 deletions and IgA deficiency. Case ReportThe propositus, a 15-year-old Caucasian female, was the product of an uncomplicated term pregnancy and d!livery and had a birthweight of 3-5 kg.There was no history of parental radiation or maternal drug ingestion.The mother was 21 and the father 27 years of age at the time of delivery.Three sibs, one older and two younger, are living and wll.There was no history of abortion.The infant was well at birth but was noted to have abnormalities of the feet.Her speech and motor development were slow.She did not begin walking alone until almost 2 years of age.At 7 years of age she was found to have a hearing defect associated with small ear canals.She had several upper respi- ratory infections during the first two years of life, has had several episodes of otitis media, had pneumonia at age 13, and has had a chronic productive cough for several years.There was no history of gastro-intestinal disease.