XO/XY mosaicism in phenotypic males.

نویسندگان

  • K Walker
  • A J Gunn
  • P D Gluckman
چکیده

Eight cases of 45 XO/46 XY mosaicism are described: four were phenotypic males. Karyotyping should be performed more frequently in short boys as growth hormone treatment and testicular biopsy, to screen for carcinoma in situ, are likely to be beneficial.

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45,X/46,XY mosaic patients exhibit a wide phenotyp- ic spectrum, ranging from normal females and females with Turner syndrome and normal males with mild hypospadias, to male or female pseudohermaphroditism (1). Prenatally diagnosed cases of 45,X/46,XY mosaicism

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عنوان ژورنال:
  • Archives of disease in childhood

دوره 65 8  شماره 

صفحات  -

تاریخ انتشار 1990