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  • Title: [45,X/46,SYq dic-Sexchromosome mosaic].
    Author: Frey RO, Bühler EM, Bühler UK, Stalder GR.
    Journal: Humangenetik; 1975; 27(2):81-90. PubMed ID: 1150238.
    Abstract:
    This is the report on an obese girl with small stature and sexual infantilism. A 45,X/46,XYq dic mosaic was found in blood and fibroblast cultures. A summary is given of the cases so far reported in the literature. The clinical picture does not differ significantly from that of 45,X/46,XY cases. The relationship of phenotype and structural abnormalities of the Y chromosome is discussed.
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