Unilateral microscopic gonadoblastoma in a prepubertal Turner mosaic with Y chromosome material identified by restriction fragment analysis.
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.
Shah
K D
KD
Department of Pathology, City Hospital Center, Elmhurst, New York 11373.
Kaffe
S
S
Gilbert
F
F
Dolgin
S
S
Gertner
M
M
D002648:Child; D002874:Chromosome Mapping; D004247:DNA; D004407:Dysgerminoma / Q000175:diagnosis* / Q000235:genetics / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000648:ultrastructure; D011627:Puberty; D015183:Restriction Mapping; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D014998:Y Chromosome
D004247:DNA