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Research Article
Achondroplasia in sibs of normal parents.
  1. N Philip,
  2. M Auger,
  3. J F Mattei,
  4. F Giraud
  1. Centre de Génétique Médicale et INSERM U242, Hôpital d'Enfants de la Timone, Marseille, France.

    Abstract

    A new case of recurrent achondroplasia in sibs of normal parents is reported. Two sisters and a half sister were affected. Various mechanisms can be postulated to account for unexpected recurrence of achondroplasia in the same sibship. Germinal mosaicism and unstable premutation are discussed here.

    https://doi.org/10.1136/jmg.25.12.857

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