4例自然流产中8三体额外染色体起源的分析。
Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions.
作者信息
Nicolaidis P, von Beust G, Bugge M, Karadima G, Vassilopoulos D, Brøndum-Nielsen K, Petersen M B
机构信息
Mitera Maternity Hospital, Athens, Greece.
出版信息
Fetal Diagn Ther. 1998 Jan-Feb;13(1):42-5. doi: 10.1159/000020800.
OBJECTIVE
To determine the origin of the extra chromosome in trisomy 8 in spontaneous abortions.
METHODS
We analyzed 4 cases of nonmosaic trisomy 8 in 1st-trimester spontaneous abortions and their parents with DNA polymorphism analysis using microsatellite DNA markers.
RESULTS
In 3 cases the extra chromosome was maternal in origin and in 1 case paternal in origin. In 2 of the cases the nondisjunction had occurred in maternal meiosis, while the other 2 cases were consistent with a postzygotic (mitotic) origin of the additional chromosome.
CONCLUSION
Although a small number of cases studied, these results suggest differences from the common autosomal trisomies 21, 18, 16, and 13 where the vast majority of cases are due to errors in maternal meiosis.
目的
确定自然流产中8三体额外染色体的来源。
方法
我们使用微卫星DNA标记对4例孕早期自然流产的非嵌合型8三体及其父母进行了DNA多态性分析。
结果
3例额外染色体来源于母亲，1例来源于父亲。其中2例减数分裂不分离发生在母亲减数分裂过程中，另外2例与额外染色体的合子后（有丝分裂）起源一致。
结论
尽管研究的病例数量较少，但这些结果表明与常见的常染色体三体21、18、16和13不同，后者绝大多数病例是由于母亲减数分裂错误导致的。
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