Diagnostic applications of H-Y serology: H-Y negative phenotype in cells from 45, X/ 46, XY fetus with testes
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 30 (5) , 366-373
- https://doi.org/10.1111/j.1399-0004.1986.tb01893.x
Abstract
Sexual dysmorphism should be considered likely in cases in which H-Y phenotype and XY complement are found together. In the case described here, a pregnancy was terminated at nineteen weeks of gestation after 45,X and 46,XY cell lines were detected among cultured amniocytes. The fetus was a male with hypospadias and intraabdominal testes containing irregular tubules and hyperplastic interstitium. Cultured skin fibroblasts, containing 45,X and 46,XY lines in ratio of 18:2, were typed H-Y antigen negative. This underscores the danger of predicting gonadal type on the basis of somatic H-Y phenotype.Keywords
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