H-Y antigen-positive male pseudohermaphroditism with 45,X/46,XYq-mosaicism |
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| Authors: | J B Maihes D E Pittaway J Rary H Chen W D Grafton |
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| Institution: | (1) Department of Obstetrics and Gynecology, Louisiana State University School of Medicine in Shreveport, P.O. Box 33932, 71130 Shreveport, LA, USA;(2) Johns Hopkins University School of Medicine, Baltimore, MD, USA;(3) Eastern Virginia Medical School, Norfolk, VA, USA |
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| Abstract: | Summary A 42-year-old male had short stature, microphallus, hypospadias, a bifid scrotum, abdominal undifferentiated testes, a uterus, bilateral fallopian tubes, and 45,X/46,XYq-mosaicism in his blood, skin, and germinal tissue and tissue surrounding the testes as determined by means of G-, Q-, and C-banding. An H-Y antigen assay on skin fibroblasts was positive, indicating that the locus for this antigen is not located in the brightly fluorescent region of the Y chromosome. |
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