[45X/46XY/46XrY mosaic with banding and the Turner phenotype (author's transl)].
A chromosome make-up of 45X/46XY can be associated with gonadal dysgenesis, partial dwarfism and Turner-like congenital abnormalities according to Simpson's terminology, as can pure 45X. The Turner syndrome in the form of X/XY is rare. There is a double interest in the case that we report apart from its rarity; first because it has been possible to show lack fluorescence of the Y chromosome which can occur in the pathogenesis of clinical manifestations, when a third clone exists as an addition together with a ring chromosome Y. Because the risks of tumours developing are great when the caryotype includes a Y even if it is one with banding the adnexae should be removed routinely in these cases. A tumour can develop in these girls whereas there is practically no risk if the caryotype is 45X or a mosaic without a Y in it.
D002648:Child; D005260:Female; D006801:Humans; D009030:Mosaicism; D010641:Phenotype; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*
Mosaïque 45,X/46,XY/46,XrY avec bandelettes et phénotype turnérien.