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Xq25缺失与生育能力:三例报告;关键区域假说的可能例外情况

Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis.

作者信息

Naguib K K, Sundareshan T S, Bahar A M, Al-Awadi S A, Jeryan L A, Hamdan M R

机构信息

Kuwait Medical Genetics Centre, Maternity Hospital, Safat.

出版信息

Fertil Steril. 1988 May;49(5):917-9. doi: 10.1016/s0015-0282(16)59907-5.

Abstract

We report on an Arab family in which a mother and two of her daughters, despite having deletion Xq25, are fertile. So far, only one case of deletion Xq25 associated with fertility has been reported. Consistent inactivation of the deleted X chromosome in the proposita and early menopause in the mother were noted. The effect of Xq deletion on fertility and the CRH is discussed.

摘要

我们报告了一个阿拉伯家庭,该家庭中一位母亲和她的两个女儿尽管存在Xq25缺失,但仍具有生育能力。到目前为止,仅报道过一例与生育能力相关的Xq25缺失病例。我们注意到先证者中缺失的X染色体持续失活,以及母亲出现过早绝经的情况。本文讨论了Xq缺失对生育能力和促肾上腺皮质激素释放激素(CRH)的影响。

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