[Chromosome 18 long-arm deletion. Report of 1 case]

Authors report a ten month old girl with multiple malformations: midfacial hypoplasia, hypertelorism, carp mouth, very marked antihelix, poor muscular tone, spindle-shaped fingers with a high frequency of whirles and low levels of serum immunoglobulin A. In leukocyte culture, patient shows a deletion of the long arm of a 18 chromosome.