title: Diagnostic applications of H-Y serology: H-Y negative phenotype in cells from 45,X/46,XY fetus with testes.
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.
mesh_terms: D000328:Adult; D000649:Amniocentesis; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D005260:Female; D006182:H-Y Antigen / Q000235:genetics / Q000302:isolation & purification*; D006801:Humans; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D013737:Testis / Q000002:abnormalities
chemical_list: D006182:H-Y Antigen