Interstitial deletion 1p as a result of a de novo reciprocal 1p;2p translocation.
A 5-month-old female patient with psychomotor retardation and minor dysmorphisms is described. Cytogenetic analysis using high-resolution banding technique revealed an interstitial deletion of the short arm of one chromosome 1 (p21----p22.2) resulting from a de novo translocation t(1;2)(p22;p25).
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics*; D014178:Translocation, Genetic