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Short report
Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)

Abstract

Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.

  • maternal uniparental disomy
  • chromosome 14
  • imprinting

https://doi.org/10.1136/jmg.36.8.633

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