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Diagnostic applications of H‐Y serology: H‐Y negative phenotype in cells from 45, X/ 46, XY fetus with testes
Author(s) -
Lieber Ernest,
Wachtel Stephen S.,
Aftalion Belinde,
Zaslav AnnLeslie
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb01893.x
Subject(s) - phenotype , fetus , gestation , biology , somatic cell , serology , endocrinology , microbiology and biotechnology , medicine , pathology , andrology , pregnancy , immunology , genetics , antibody , gene
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.