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45, XO/46, XYq dic mosaicism was found in a patient with ambiguous genitalia. The patient had dysgenetic testis and gonadoblastoma. The same mosaicism was found in skin and gonadal tissue cultured fibroblasts. Localization of the genes related to height and male determination is discussed.

ABSTRACT. Balci, S., Halicioglu, C., Say, B. and Taysi, K. (Department of Pediatrics and Division of Clinical Genetics, Hacettepe University, Ankara, Turkey). The cat‐eye syndrome with unusual skeletal malformations. Acta Paediatr Scand, 63: 623, 1974.—A fifteen day old female infant with anal atresia, rectovaginal fistula, short left forearm and agenesis of the left thumb is presented. In addition, the patient had a small, extra chromosome which was associated with D or G group chromosomes. The skeletal survey revealed aplasia of the first rib on the right as well as aplasia of the radial bone, first metacarp and thumb on the left. These radiological findings associated with the cat eye syndrome have not been reported previously.

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