[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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18 / Q000648:ultrastructure*; D003878:Dermatoglyphics; D004406:Dysgammaglobulinemia / Q000235:genetics; D005260:Female; D006801:Humans; D017098:IgA Deficiency; D007621:Karyotyping
Delección de los brazos largos del cromosoma 18.