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Surprising advances in research in human cytogenetics during the past several years have yielded a tremendous increase of knowledge on sex chromosome aberrations in association with sex anomalies in man. Thus, several sex chromosome variants other than the common XXY sex chromosome constitution have been known to occur in patients with Klinefelter's syndrome. So far as the authors are aware, at least 15 cases of phenotypic males with an XXXXY and 8 cases with an XXXY sex chromosome anomaly have been reported to date. Further, XXYY, XXXYY and mosaics of XX/XXY, XY/XXY, XXXY/ XXXXY and XXXY/XXXXY/Y have been described to occur in this syndrome, though less frequently. The present report deals with two patients diagnosed as Klinefelter's syndrome, one having an XXXXY complex and another an XXXY constitution. The cases seem to be the first to be described in Japanese population: they were found in the course of a sex chromatin screening of mentally retarded children. Clinical notes: The patient (case 1) was a 12-year-old boy, 142 cm in height and 23.5 kg in weight. His parents were healthy, and the maternal and the paternal ages at the time of the patient's birth were 21 and 25 years, respectively. He had widely spaced eyes characterized by a divergent strabismus and mongoloid slant. The nasal bridge was broad and flat, and the maxilla was hypoplastic, consequently the mandible was prognathic. The teeth were short and peg-shaped, and widely spaced in arrangement. The palate, neck and chest were normal in appearance. The elbow-joints had a limited supination due to the bilateral radio-ulnar synostosis. The fifth fingers were short and curved in both hands. The penis was small, 4 cm in length, showing pseudophimosis. The scrotum was normal in size, but testes were extremely small for his age. The patient showed a severe mental deficiency, the intelligence quotient being 30. The

Two Phenotypic Males with XXXXY and XXXY Sex Chromosomes