有一种罕见的疾病叫作“特纳氏综合症”(Turner ' s Syndrome)。患有这种疾病的女性,性别基因(XX)缺失了一条染色体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.
无法用显微镜观察到的较小的染色体缺失。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.
结论在染色体异常核型中,均有不同程度的基因缺失,造成基因连锁的不平衡,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.
FAP是一种单基因遗传病,是由APC基因的突变或缺失引起的(apc)基因是5号染色体上发现的。
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.
结论:本文的研究结果提示X染色体长臂末端可能是卵巢早衰的特异性基因区段并与X染色体末端端粒的缺失有关。
Conclusion: The result showed that terminal deletion of Xq and telomeric deletion of X chromosome were important factors of premature ovarian failure.
结论:本文的研究结果提示X染色体长臂末端可能是卵巢早衰的特异性基因区段并与X染色体末端端粒的缺失有关。
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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