TY - JOUR
T1 - Presence of H-Y antigen in patients with Ullrich-Turner syndrome and X-chromosome rearrangements
AU - Haseltine, F. P.
AU - DePonte, K. K.
AU - Breg, W. R.
AU - Genel, M.
PY - 1982
Y1 - 1982
N2 - Cells from eight of ten patients with gonadal dysgenesis and an isochromosome for the long arm of X, (i(Xq), have been found to be H-Y antigen-positive, using an assay that employs rat antiserum and Raji cells. In addition, two patients with del(Xq) were also found to be H-Y antigen-positive, whereas four patients in whom only a 45,X line was detected were H-Y antigen-negative. These findings suggest that the X chromosome plays a role in the expression of H-Y antigen in the absence of a Y-chromosome. Since the authors' patients with i(Xq) show no evidence of testicular differentiation, it is clear that there is not enough H-Y antigen on these patients' cells to direct development of a testis. These findings are consistent with the view that the normal functioning of genes on the X and the Y chromosomes is necessary for testicular organogenesis to occur.
AB - Cells from eight of ten patients with gonadal dysgenesis and an isochromosome for the long arm of X, (i(Xq), have been found to be H-Y antigen-positive, using an assay that employs rat antiserum and Raji cells. In addition, two patients with del(Xq) were also found to be H-Y antigen-positive, whereas four patients in whom only a 45,X line was detected were H-Y antigen-negative. These findings suggest that the X chromosome plays a role in the expression of H-Y antigen in the absence of a Y-chromosome. Since the authors' patients with i(Xq) show no evidence of testicular differentiation, it is clear that there is not enough H-Y antigen on these patients' cells to direct development of a testis. These findings are consistent with the view that the normal functioning of genes on the X and the Y chromosomes is necessary for testicular organogenesis to occur.
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U2 - 10.1002/ajmg.1320110111
DO - 10.1002/ajmg.1320110111
M3 - Article
C2 - 7065005
AN - SCOPUS:0020086311
SN - 0148-7299
VL - 11
SP - 97
EP - 107
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 1
ER -