Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome
- 1 February 1983
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 23 (2), 172-176
- https://doi.org/10.1111/j.1399-0004.1983.tb01868.x
Abstract
A case of mixed (asymmetric) gonadal dysgenesis is reported in a [30 mo. old] girl with ambiguous external genitalia, a right intra-abdominal testis, a left streak gonad containing follicle-like structures devoid of oocytes and bilateral Mullerian derivatives. Buccal smear cells were X-chromatin negative and a Y-chromatin body was present in 31% of cells. Cytogenetic studies in peripheral blood leukocyte cultures showed sex chromosome mosaicism with cell lines including structural abnormalities of the Y chromosome in 36% of the cells: 45,X/46,XY/46,X,+i(Yp)/46,X,+Yq-/47,XYY/47,XY+Yq-.Keywords
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