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 clinical heterogeneity, and Crouzon, Pfeiffer, or Jackson-Weiss phenotypes sometimes result from the same mutations. Thus, detection of a mutation may indicate a craniosynos-tosis, 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.

0 0

Post a comment