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Am J Clin Pathol. 1988 Nov;90(5):622-7.

Unilateral microscopic gonadoblastoma in a prepubertal Turner mosaic with Y chromosome material identified by restriction fragment analysis.

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Department of Pathology, City Hospital Center, Elmhurst, New York 11373.

Erratum in

  • Am J Clin Pathol 1989 Feb;91(2):240.


A high incidence of gonadal tumors has been demonstrated in patients with gonadal dysgenesis in the presence of Y chromosome material. A unilateral, microscopic gonadoblastoma was found in the dysgenetic gonad of a ten-year-old, phenotypic female, with Turner stigmata and chromosome mosaicisms of three cell populations 45,X/46,X,+mar,/47,X,+mar,+mar. It is often impossible to determine by cytogenetic analysis if the marker chromosome has derived from the X or Y chromosome. The origin of these marker chromosomes was elucidated by the use of DNA probe (pDP34) for male-specific sequences of the Y chromosome. The presence of Y-specific fragments in the patient's DNA led to surgical exploration and the detection of a gonadoblastoma.

[Indexed for MEDLINE]

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