Abstract
A patient is described with some features of the Turner syndrome (dwarfism, pterygium colli, hypoplasia mandibulae and syndactylism) but with normal genital development.*
In the skin 9.6% of the nuclei were Barr-positive. Skin and blood-cultures revealed that she was a mosaic with an XO and an X-ring cell-line. The ring-chromosome is assumed to be derived from an X-chromosome.
A possible explanation for the existence of patients with some features of the Turner syndrome and normal genital development is discussed.
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Hustinx, T.W.J., Stoelinga, G.B.A. A ring-X-chromosome in part of the somatic cells of a patient with some characteristics of the Turner syndrome. Genetica 35, 1–14 (1964). https://doi.org/10.1007/BF01804870
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DOI: https://doi.org/10.1007/BF01804870