Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome

We report on a Japanese boy with interstitial deletion of chromosome 12q12–q13.12, who had multiple congenital anomalies with severe psychomotor retardation. Most of the clinical manifestations were compatible with Noonan syndrome phenotype except for the absence of cardiac defects. Severe mental retardation and intrauterine onset of growth retardation may have been due to the chromosomal deletion. The interstitial deletion does not overlap a...