CONSTITUTIONAL CHROMOSOME-ANOMALIES IN PATIENTS WITH CEREBRAL GIGANTISM (SOTOS SYNDROME)

Two boys are presented with the clinical features of cerebral gigantis m and chromosomal variants which have not been described so far in thi s syndrome. In the first boy a de novo pericentric inversion of chromo some Y was found, the karyotypes of all other investigated family memb ers were normal. The patient had an obstructive hypertrophic cardiomyo pathy and atrial septal defect type II. The second boy had inherited p ericentric inversion of the heterochromatic region of chromosome 9 fro m his mother. This chromosome 9 variant was also found in his sister w ho had a similar phenotype but without gigantism. Endocrine evaluation demonstrated normal results in both boys. The intellectual achievemen t in both cases was average.