CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve.,Genetics in Medicine

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CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-09-01 , DOI: 10.1038/gim.2017.220
Jovana Lekovich ₁ , Limor Man ₁ , Kangpu Xu ₁ , Chelsea Canon ₂ , Debra Lilienthal ₁ , Joshua D Stewart ₁ , Nigel Pereira ₁ , Zev Rosenwaks ₁ , Jeannine Gerhardt _{1,

2}

Affiliation

Fragile X premutation (PM) carriers may experience difficulties conceiving a child probably due to fragile X-associated diminished ovarian reserve (FXDOR). We investigated which subgroups of carriers with a PM are at higher risk of FXDOR, and whether the number of AGG interruptions within the repeat sequence further ameliorates the risk.

中文翻译：

CGG 重复长度和 AGG 中断作为脆性 X 相关卵巢储备减少的指标。

脆性 X 前突变 (PM) 携带者可能会遇到受孕困难，这可能是由于脆性 X 相关的卵巢储备减少 (FXDOR)。我们调查了携带 PM 的哪些亚组发生 FXDOR 的风险更高，以及重复序列中 AGG 中断的次数是否进一步降低了风险。

更新日期：2017-12-22

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