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Research Article
Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).
  1. J P Park,
  2. J B Moeschler,
  3. S Z Berg,
  4. D H Wurster-Hill
  1. Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire 03756.

    Abstract

    A 28 year old man with mental retardation and therapeutically controlled schizophrenia was found to have a de novo interstitial deletion in the long arm of a chromosome 9 (46,XY,del(9)(q32q34.1). Additional phenotypic abnormalities included short stature, a short webbed neck with a low posterior hairline, dysmorphic facies, a narrow palate with an inverted V soft palate, and tapered fingers with bilateral short fifth metacarpals. Interstitial deletion of chromosome 9 is a rare finding and we are aware of only one other case involving the q32q34.1 region.

    https://doi.org/10.1136/jmg.28.4.282

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