Parental origin of autosomal trisomies
Parental origin of autosomal trisomies
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常染色体三体性的亲本起源
DOI：
10.1111/j.1469-1809.1984.tb01008.x
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发表时间：
1984
影响因子：
1.9
通讯作者：
J. A. Yamane
中科院分区：
文献类型：
--
作者：
T. Hassold;D. Chiu;J. A. Yamane
通过比较父母的染色体异态性及其三体性自然流产，试图确定 204 例单三体性的父母起源，其中包括 3、4、9、13、14、15、16、21 和 22 三体性病例，9 例嵌合三体性和 9 例双三体性。母体减数分裂 I 的不分离是所有研究的三体性（包括嵌合体）额外染色体最有可能的来源，并且所有母体年龄的情况都是如此。然而，与所有其他三体性相比，21 三体性的父系病例比例显着增加。考虑已知亲本来源的 21 三体性病例中的性别比例表明，存在过多的雄性与父本第一次减数分裂不分离相关。事实上，这种起源机制在 21 三体性中更为普遍，这一事实可以很好地解释为什么男性过多与这种异常相关，但与其他常染色体三体性无关。
Chromosome heteromorphisms of parents and their trisomic spontaneous abortions were compared in an attempt to determine the parental origin of 204 single trisomies, including cases of trisomy 3, 4, 9, 13, 14, 15, 16, 21 and 22, nine mosaic trisomies and nine double trisomies. Non‐disjunction at maternal meiosis I was the most likely source of the additional chromosome for all trisomies studied, including the mosaics, and this was the case at all maternal ages. However, trisomy 21 had a significantly increased proportion of paternally derived cases by comparison with all other trisomies. Consideration of the sex ratio in eases of trisomy 21 of known parental origin suggests that there is an excess of males associated with paternal first meiotic division non‐disjunction. The fact that this mechanism of origin is more prevalent in trisomy 21 may well explain why there is an excess of males associated with this abnormality but not with other autosomal trisomies.