A case of de novo interstitial deletion 3q.
A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, multiple skin pigmentations, and renal abnormalities. The parents had normal karyotypes.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007668:Kidney / Q000002:abnormalities; D012880:Skin Pigmentation; D013131:Spine / Q000002:abnormalities