Interpretation of Test Results

Heterozygous mutations should be compared with tables of known mutations (the online Human Gene Mutation Database) for interpretation. There is significant pheno-typic heterogeneity, and Crouzon, Pfeiffer, or Jackson-Weiss phenotypes sometimes result from the same mutations. Thus, detection of a mutation may indicate a craniosynostosis, but not necessarily which syndrome. In the case of a de novo mutation, recurrence risk due to the possibility of germline mosaicism must be considered.

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