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Recurrence of Pallister-Hall syndrome in two sibs.
  1. H M Thomas,
  2. P J Todd,
  3. D Heaf,
  4. A E Fryer
  1. Respiratory Unit, Royal Liverpool Children's Hospital, Alder Hey, UK.

    Abstract

    We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital abnormalities and could represent either mild expression or gonosomal mosaicism for a dominant gene.

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