Partial deletion of short arm of chromosome 18.
Three cases of partial deletion of the short arm of chromosome 18 (pll-pter) are presented. The cytogenetic and clinical features of the patients observed are compared to cases found in the literature. 18p-aberration produces a fairly unique phenotypic alteration, but on the sole basis of the clinical manifestation, without cytogenetic analysis, correct diagnosis cannot be established.
D002648:Child; D002869:Chromosome Aberrations / Q000503:physiopathology*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D003582:Cytogenetics; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011596:Psychomotor Disorders / Q000503:physiopathology