大動脈狭窄症を呈した混合型性腺形成不全症(45,X/46,XYq-)の1例
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概要
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Mixed gonadal dysgenesis (an intraabdominal testis on one side and a dysgenetic gonad on the opposite side) associated with coarctation of the aorta was found in a 25-year-old, legally female patient. Culture of peripheral leucocytes revealed a chromosomal mosaicism of (45, X) and (46, Xy) with the ratio of 3 to 1. Structural abnormality of the Y chromosome has been tentatively concluded as a deletion of its long arm.
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