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Autosomal deletion syndrome 46,XX,18p-: a new case report with absence of IgA in serum.

Twenty-one cases of presumptive deletion of the short arm of a No. 18 chromosome were recently reviewed by Reinwein et al. (1968) together with a new case from their own material. Five additional reports describing 6 cases have since been published (Grouchy, Rossier, and Joab, 1967; Gilgenkrantz, Marchal, and Neimann, 1968; Gorlin, Yunis, and Anderson, 1968; McDermott et al., 1968; Jacobsen and Mukkelsen, 1968). It is becoming increasingly evident that the clinical features attributable to this syndrome are confined very largely to errors of development involving the same systems. The phenotypic manifestations, however, range from severe holoprosencephalies incompatible with life, to cases with various mild abnormalities of the eyes, nose, mouth, ears, and teeth. All are mentally defective. In contrast to trisomy D, extracephalic malformations are absent or trivial. In addition to these physical and mental stigmata, dysgammaglobulinaemia has recently been associated with deficiencies involving chromosome No. 18. To date, an absence of serum and salivary IgA has been reported in two cases of deletion of the short arm (D. Daentle and D. Smith, 1968, personal communication to Stewart et al., 1968; Ruvalcaba and Thuline, 1969), two cases of deletion of the long arm (Stewart et al., 1968; Feingold et al., 1969), and in two persons with a ring chromosome 18 (Finley et al., 1968; Feingold et al., 1969). We wish to report a case investigated in our clinic in which a presumptive short arm deletion of chromosome 18 is associated with an absence of IgA in the serum.