PATIENT WITH DEL(12)(Q12Q13.12) MANIFESTING ABNORMALITIES COMPATIBLE WITH NOONAN-SYNDROME

me report on a Japanese boy with interstitial deletion of chromosome 1 2q12-q13.12, who had multiple congenital anomalies with severe psychom otor retardation, Most of the clinical manifestations were compatible with Noonan syndrome phenotype except for the absence of cardiac defec ts. Severe mental retardation and intrauterine onset of growth retarda tion may have been due to the chromosomal deletion. The interstitial d eletion does not overlap a putative Noonan syndrome locus, which was r ecently assigned to 12q22-qter by linkage analysis, Although correlati on between the phenotype and del(12)(q12q13.12) was not confirmed, bec ause this is the first report of deletion of proximal 12q, the deleted segment may contain another Noonan syndrome locus. (C) 1998 Wiley-Lis s, Inc.