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Article

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

8 Dec 2013

Abstract excerpt

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...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Identifiers

PMID: 24324027
DOI: 10.1093/humrep/det436

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