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Gonadoblastoma in a patient with an isodicentric X chromosome
Author(s) -
KATAYAMA K. PAUL,
ROESLER M. R.,
DUNGAR CHARLES F.,
MATTINGLY RICHARD F.
Publication year - 1983
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/cge.1983.24.5.355
Subject(s) - gonadoblastoma , y chromosome , gonadal dysgenesis , chromosome , x chromosome , genetics , biology , dysgerminoma , gynecology , karyotype , medicine , endocrinology , gene , ovary
Although gonadoblastoma is known to be associated with the presence of a Y chromosome, this case report of a 15‐year‐old patient with gonadal dysgenesis, gonadoblastoma, and an idic(Xq‐) chromosome provides evidence for the occurrence of gonadoblastoma even in the absence of a Y chromosome. A review of previous cases reported to have gonadoblastoma in the absence of a Y chromosome revealed that the presence of some breast development was the common denominator among those patients. Therefore, a patient who presents with gonadal dysgenesis with some breast development, but lacks a Y chromosome may deserve as close scrutiny as the patient with gonadal dysgenesis in the presence of a Y chromosome.