• 罕见疾病叫作“特纳氏综合症”(Turner ' s Syndrome)。患有这种疾病的女性,性别基因(XX)缺失了一染色体x,所以也被称为XO女孩。

    There is a rare condition known as Turner's Syndrome where a genetic female (XX) is missing one of the X chromosomes and she is known as an XO girl.

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  • 无法用显微镜观察较小染色体缺失参见邻接基因综合征

    Microdeletion — a chromosomal deletion that is too small to be seen under the microscope. See also contiguous gene syndrome.

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  • 结论染色体异常核型中,均不同程度基因缺失造成基因连锁平衡,因而出现一些临床效应

    Conclusion: gene have different degree loses in abnormal chromosome karyogram, result in chromosomal gene linkage not equilibrium and and emergence clinical effect.

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  • FAP种单基因遗传病,是APC基因突变缺失引起(apc)基因5染色体发现的。

    FAP is a monogenetic disease and is caused by the mutation or deletion of the adenomatous polyposis coli (APC) gene which is found on chromosome 5.

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  • 结论:本文研究结果提示X染色体长臂末端可能卵巢早衰特异性基因区段并与X染色体末端端缺失有关。

    Conclusion: The result showed that terminal deletion of Xq and telomeric deletion of X chromosome were important factors of premature ovarian failure.

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  • 结论:本文研究结果提示X染色体长臂末端可能卵巢早衰特异性基因区段并与X染色体末端端缺失有关。

    Conclusion: The result showed that terminal deletion of Xq and telomeric deletion of X chromosome were important factors of premature ovarian failure.

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