Tetsuji Kadotani

A Chromosomal Study on 100 Cases of Cerebral Palsy

Abstract A chromosomal study was conducted on the patients of cerebral palsy with congenital anomalies. One hundred cases were investigated on the chromosomal abnormalities and fragile sites. As a result of this study, 8 cases had abnormal karyotypes showing an incidence of 8.0%. Three out of the 8 cases had chromosomal aberrations transmitted from their parents showing an incidence of 37.5%. Only one case had a folic acid sensitive heritable fragile site at 12q13. Fragile X was not detected.

Chromosomal Study on Congenital Anomalies with Mental Retardation

Abstract Chromosomal study was carried out on congenital anomalies with mental retardation to explore the relation between mental retardation and chromosomal abnormalities. During a period from 1974 to 2000, 877 cases were referred for this study. These included 173 cases of central nervous system anomalies, 165 cases of epilepsy, 21 cases of muscular dystrophy, and 70 cases of Down syndrome. As a result, one hundred and fifty-four cases of the 877 had chromosomal abnormalities showing an incidence of 17.6% and 14 cases of the 144 had the abnormalities transmitted from the parents.

Chromosomal Study in Ageing

Abstract Chromosomal study on satellite association and fragile site was made in ageing. Satellite association was studied on 68 cases and fragile site was studied on 91 cases from newborn to over 90 years by blood culture. Satellite association increased in ageing. The frequency of fragile sites was statistically high in only 20-30 years group, but no difference was found in newborn, 60-76 and over 90 years group.