H-Y antigen in 46,XY pure testicular dysgenesis

Clinical, cytogenetic, pathologic and histocompatibility‐Y (H‐Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo‐gonadectomy showed gonadoblastoma and dysgerminom...

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Veröffentlicht in:American journal of medical genetics 1979, Vol.3 (2), p.149-154
Hauptverfasser: Nazareth, H. R. S., Moreira-Filho, C. A., Cunha, A. J. B., Vieira-Filho, J. P. B., Lengyel, A. M. J., Lima, M. C., Optiz, John M.
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container_end_page 154
container_issue 2
container_start_page 149
container_title American journal of medical genetics
container_volume 3
creator Nazareth, H. R. S.
Moreira-Filho, C. A.
Cunha, A. J. B.
Vieira-Filho, J. P. B.
Lengyel, A. M. J.
Lima, M. C.
Optiz, John M.
description Clinical, cytogenetic, pathologic and histocompatibility‐Y (H‐Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo‐gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F‐body (Y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46, XY chromosome constitution (Q‐banding). The data were consistent with a diagnosis of 46, XY pure testicular dysgenesis. Positive results for H‐Y antigen were found in this case.
doi_str_mv 10.1002/ajmg.1320030206
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subjects Adult
Consanguinity
Cytotoxicity Tests, Immunologic
Dexamethasone
dysgerminoma
Dysgerminoma - genetics
gonadoblastoma
H-Y antigen
H-Y Antigen - genetics
Humans
Male
Pedigree
Phenotype
pure testicular dysgenesis
Turner Syndrome - diagnosis
Turner Syndrome - genetics
Turner Syndrome - immunology
title H-Y antigen in 46,XY pure testicular dysgenesis
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