Gonadoblastoma in a patient with an isodicentric X chromosome

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...

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Published inClinical genetics Vol. 24; no. 5; p. 355
Main Authors Katayama, K P, Roesler, M R, Dungar, C F, Mattingly, R F
Format Journal Article
LanguageEnglish
Published Denmark 01.11.1983
Subjects
Adolescent
Chromosome Banding
Dysgerminoma - genetics
Female
Humans
Karyotyping
Ovarian Neoplasms - genetics
Turner Syndrome - complications
X Chromosome
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Summary: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 observe as close scrutiny as the patient with gonadal dysgenesis in the presence of a Y chromosome.
ISSN:0009-9163
DOI:10.1111/cge.1983.24.5.355