Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male.

ABSTRACT:

Background

Prader-Willi syndrome (PWS) is a multisystem genetic disorder characterized by lack of satiety leading to morbid obesity, variable degrees of mental retardation, behavior disorders, short stature, and hypogonadism. The underlying genetic cause for PWS is an imprinting defect resulting from a lack of expression of several paternally inherited genes embedded within the 15q11.2-q13 region. Although the clinical expression of hypogonadism in PWS is variable, there are no known cases of fertility in PWS men. In this paper, we described a pure, nearly diploid seminoma in an apparently 32 year-old infertile man with PWS due to maternal uniparental disomy (UPD) on chromosome 15. The development of a germ cell tumor in this subject was an unanticipated result. The aim of this stu

SUBMITTER: Eldar-Geva T 

PROVIDER: S-EPMC6160713 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature