Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.

ABSTRACT:

Study question

What is the burden of X chromosome mosaicism in the occurrence of spontaneous menarche (SM) in Turner syndrome (TS)?

Summary answer

SM was significantly associated with X chromosome mosaicism in the TS patients; a mosaicism with around 10% euploid cell line may predict spontaneous pubertal development when determined by molecular-cytogenetic techniques on uncultivated tissues.

What is known already

Spontaneous puberty can be observed in a minority of patients with TS, more frequently, but not exclusively, in those with a high level of 46,XX/45,X mosaicism at standard karyotype. The genetic mechanisms contributing to ovarian function in TS patients are still not determined. However, submicroscopic X-linked and autosomal copy number variations (CNVs) have

SUBMITTER: Castronovo C 

PROVIDER: S-EPMC3896225 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature