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Premutation in Achondroplasia

  • John M. Opitz
Part of the Basic Life Sciences book series (BLSC, volume 48)

Abstract

The genetic characteristics of achondroplasia can be summarized as follows:
  1. 1.

    It is a common disorder ranging in prevalence from 2.5 to 5 per 100,000; in Italy, Camera and Mastroiacovo (7) documented a prevalence of 1/28,000 live- and stillborn children; the best estimate of prevalence after correcting for under-ascertainment was 1/22,500.

     
  2. 2.

    Most cases (80–90 percent) are sporadic; in the study of Camera and Mastroiacovo 24/25 cases were sporadic.

     
  3. 3.

    The fertility of all achondroplasia couples (including couples with one or two achondroplastic spouses and those who had no children and all of those who had at least one child) is low, namely 0.96 (21).

     

Keywords

Skeletal Dysplasia Familial Occurrence Unstable Gene Back Mutation Cold Spring Harbor Symposium 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1988

Authors and Affiliations

  • John M. Opitz
    • 1
  1. 1.Shodair Children’s HospitalHelenaUSA

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