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A chromosomal survey was conducted on the patients with the heavy mental retardation and behavior disorders, for the purpose of getting a glimpse of the causes of mental retardation with behavior disorders. All the 56 cases under investigation were admitted to the National Sanatorium Kamo Hospital. Their common clinical signs were heavy mental retardation and various behavior disorders, and not all patients were associated with multiple malformations. The chromosome slides were prepared following the standard blood culture procedure. This karyotype analyses were made with the application of the conventional Giemsa staining and G-, and C-banding differential staining. Results and remarks. The clinical and chromosomal findings of all the patients are presented in Table I. Out of all the 56 cases, 9 cases had abnormal karyotype, showing an incidence of 16.1%. All the abnormal 9 cases were autosomal abnormalities. Further the normal variations were detected in 6 cases; 10.7%. Abnormal karyotypes were seen in one case of an elongated long arm of chromosome no. 1 and reciprocal translocation between no. 3 and no. 4: lqh+, rcp t(3;4) (g23;pl4), one case of an elongated short arm of no. 5: 5p+, one case of a deleted long arm of no. 5 : del (5) (g22g31), one case of a deleted long arm of no. 9 : del (9) (g11gl3), one case of a pericentric inversion of no. 9 : inv(9) (pllgl3), two cases of partial trisomy of the long arm of no. 15: one was der(Y), ins (Y;15) (p11;g11gl3) and the other was +del(15) (gl5gter), and two cases of trisomy 21: +21. Normal variations were observed in one case of an elongated long arm of no. 1: lqh+, two cases of no. 9: 9qh+, two cases of the Y chromosome: Yq+, and one case of the association with no. 1 and Y chromosome (lqh+, Yq+). On the results of this survey, it was revealed that in the mental retardates with behavior disorders, although they were not associated with gross malformations, the chromosome abnormalities were detected with a relatively high incidence of 16.1% as compared with the normal population; 0.3-0.5% (Makino, 1975). Acknowledgements. We are cordially obliged to Emeritus Professor Sajiro Makino, M. J. A., the senior director of the Kadotani Medical Research Foundation, for improvement of this manuscript. Financial aid from the Japan Academy is gratefully acknowledged here.

A chromosomal study on 56 cases with heavy mental retardation and behavior disorders.