Further cytogenetical observations in gonadal dysgenesis

Abstract

Summary The karyotype of two chromatin‐negative patients with Turner's syndrome has been studied in somatic cells continuously cultured in vitro. In both cases the cells displayed a complement of forty‐five chromosomes. The sex chromosomes were considered to be of the XO type. The somatic cell karyotype of the parents of one of the patients was also studied and found to be normal. Two other female patients with a tentative clinical diagnosis of gonadal dysgenesis and with a positive sex chromatin pattern were found to have a normal female karyotype. It is proposed to restrict the term of ‘Turner's syndrome’ to those individuals whose sex chromosome constitution is of the XO type. We are very much indebted to Prof. B. Vahlquist, director of the Paediatric Clinic of the University Hospital, Uppsala, for permission to quote in this paper a summary of the results of the clinical examination of patients K.E. and A.H. The skilful technical assistance of Miss E. B. Larsson with the cell culture and the photographic work is gratefully acknowledged. This research has been aided in part by a grant from the Swedish Cancer Society.