Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2–q28 associated with ovarian dysfunction

Abstract

Our analysis indicates that Xq26.2-q28 deletion is responsible for gonad dysgenesis in a family with EM/POF. The dissimilar deletion penetrance may be due to epigenetic modifications of other X genes that can contribute to human reproduction, highlighting that ovarian failure should be considered as a multifactorial disease.