Summary
We have studied a stillborn infant who had the clinical and radiographic characteristics of campomelic dysplasia. External and internal genitalia were those of a normal female, except for slight enlargement of the clitoris. Microscopic examination of the ovaries revealed some areas resembling immature dysgenetic testicular tissue. Karyotypes from lymphocyte and fibroblast cultures were 46,XY with a structurally normal Y chromosome and no evidence of mosaicism. H-Y antigen was not detected on the fibroblasts in repeated assays using Raji cells as target cells after absorption. The “sexreversal” (chromosomal male→phenotypic female) previously noted in patients with autosomal recessive campomelic dysplasia thus may be mediated through lack of detectable H-Y antigen on the cell surface. It appears that the mutation leading to campomelic dysplasia interferes with normal H-Y antigen expression.
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Puck, S.M., Haseltine, F.P. & Francke, U. Absence of H-Y antigen in an XY female with campomelic dysplasia. Hum Genet 57, 23–27 (1981). https://doi.org/10.1007/BF00271161
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DOI: https://doi.org/10.1007/BF00271161