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A case of de novo interstitial deletion 3q.
  1. N Okada,
  2. T Hasegawa,
  3. M Osawa,
  4. Y Fukuyama

    Abstract

    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.

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