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Research Article
Maternal uniparental disomy for chromosome 14.
  1. I K Temple,
  2. A Cockwell,
  3. T Hassold,
  4. D Pettay,
  5. P Jacobs
  1. Department of Child Health, University of Southampton.

    Abstract

    We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he has hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes. It is not known if the clinical findings are related or coincidental to the uniparental disomy.

    https://doi.org/10.1136/jmg.28.8.511

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