1965 年 41 巻 8 号 p. 728-733
A female baby showed multiple congenital anomalies consisting of hemangioma, cataract, iris defect, harelip, cleft palate, deformity of right pinna, low-set ears, polydactylism, syndactylism, umbilical hernia, and the heart malformation. She also showed striking increase of abnormal hemoglobin, Hb F, and of erythrocytic enzymes GOT, GPT, LDH, acid- and alkaline phosphatases. Her chromosome sets in the leukocytes contained a trisomic acrocentric member probably belonging to the D group. Thus, this observation provides the first instance of the D1 trisomy syndrome occurring in Japanese.
