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  • Title: A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique.
    Author: Sichong Z, Bui TH, Castro I, Iselius L, Håkansson S, Lundmark KM.
    Journal: Hum Genet; 1981; 59(2):178-81. PubMed ID: 7327578.
    Abstract:
    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.
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