Abstract
The mosaicism 45,X/46,XY is one of the sex chromosome abnormalities with a wide phenotypic expression. In 23 cases of XO/XY mosaicism diagnosticated by us, the phenotypic manifestations vary from phenotypic females with clinical Turner's syndrome and bilateral streaks (2 cases) to phenotypic male with infertility disorder (1 case), being the asymmetrical gonadal differentiation with ambiguous external genitalia (15 cases) and males with hypospadias and bilateral normal or dysgenetic testes (5 cases) the most frequent expressions.
The use of chromosome banding techniques, mainly Q and C ban ds, allowed to find an unexpectedly high proportion of abnormal-Y chromosome in XO/XY mosaicism, suggestiong that such altered Y chromosome may predispose to anaphase lag or to mitotic non-disjunction leading to XO/XY or XO/XY/XYY mosaicism, respectively.
From own 10 cases re-studied with chromosome bands techniques, five of them (50 %) presented an abnormal Y chromosome: 3-Ygh- and 2-idic (Yq). The three patients with the Y chromosome without the heterocromatic region, studied with high resolution chromosome methodology, showed to be an isodicentric for the short arm of Y chromosome: idic (Yp). We suggest that the origin of the mosaicism XO/XY could be due to an abnormal and unstable Y chromosome such as an isodic. Yp.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Berqadá, C., Coco, R. 163 ABNORMAL Y CHROMDSOME IN 45, X/46,XY MOSAICISM. Pediatr Res 19, 630 (1985). https://doi.org/10.1203/00006450-198506000-00183
Issue Date:
DOI: https://doi.org/10.1203/00006450-198506000-00183