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Gonadal dysgenesis with 45,X/46,X,dic(Yp) mosaicism
Author(s) -
Ying K. L.,
And E. J. Ives,
Stephenson O. D.
Publication year - 1977
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.1399-0004.1977.tb01335.x
Subject(s) - gonadal dysgenesis , fragile x syndrome , x chromosome , genetics , fragile x , biology , endocrinology , medicine , gene
A female patient with a gonodal mucinous cystadenoma on the right side and a gonado‐blastoma on the left was found to be a 45,X/46,X,dic (Yp) mosaic, This brings the total number of cases with dicentric Y chromosome reported to date to 23. Together with the available evidence, the information derived from this case supports the hypothesis that the gene on the long arm of the Y chromosome is responsible for the initiation of testicular differentiation, whereas that on the short arm is responsible for the maturation of the testes.