A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique.
A girl with delayed growth in body height and weight, retarded psychomotor development, facial dysmorphism, high-arched palate, extension defects of elbows, and a probable hearing impairment is presented. A chromosome investigation by both conventional and high-resolution banding techniques revealed an apparently pure interstitial deletion of the proximal segment of the short arm of chromosome 3 (46,XX,del(3) (p11p14.2) de novo). The paternal karyotype is 47,XYY. The clinical features of the patient are compared with those of two previously reported cases in the literature with an interstitial 3p deletion.
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics