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Research Article
Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.
  1. M L Whiteford,
  2. A Narendra,
  3. M P White,
  4. A Cooke,
  5. A G Wilkinson,
  6. K J Robertson,
  7. J L Tolmie
  1. Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow, UK.

    Abstract

    We report an infant with intrauterine growth retardation and transient neonatal diabetes who has paternal uniparental disomy for chromosome 6. The infant was not dysmorphic and had no congenital anomalies. To our knowledge, this is the third case of paternal uniparental disomy occurring in an infant with transient neonatal diabetes, thus confirming the association.

    https://doi.org/10.1136/jmg.34.2.167

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