Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes
Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes
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DOI：
10.1002/ajmg.a.40646
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发表时间：
2018-12-01
影响因子：
2
通讯作者：
Surti, Urvashi
中科院分区：
文献类型：
--
作者：
Carson, Jason C.;Hoffner, Lori;Surti, Urvashi
三倍体是存在额外的单倍体染色体组，可以完整或嵌合的形式存在。三倍体细胞中额外的单倍体染色体组可以是母本或父本来源的。二倍体/三倍体混合倍体是三倍体嵌合体的一种独特形式，需要在最早的合子分裂时将整个亲本基因组异常分离成不同的卵裂球谱系（异体细胞分裂）。在这里，我们报告了我们机构的八个二倍体/三倍体混合倍体病例，并对文献进行了全面的回顾。在两种情况下确定了额外染色体组的亲本起源；并且，根据表型证据，我们提出其他情况下的亲本起源。一个具有复杂混合倍体的病例除了涉及两种不同的精子外，似乎还具有双性起源。在我们的八个病例中，只有一例生下了健康的孩子。其他妊娠以流产、选择性终止妊娠、胎儿宫内死亡或新生儿死亡告终。对文献的回顾和我们的病例结果表明，大多数公认的二倍体/三倍体混合倍体病例具有双性起源。
Triploidy is the presence of an extra haploid set of chromosomes and can exist in complete or mosaic form. The extra haploid set of chromosomes in triploid cells can be of maternal or paternal origin. Diploid/triploid mixoploidy is a unique form of triploid mosaicism that requires the aberrant segregation of entire parental genomes into distinct blastomere lineages (heterogoneic cell division) at the earliest zygotic divisions. Here we report on eight cases of diploid/triploid mixoploidy from our institution and conduct a comprehensive review of the literature. The parental origin of the extra set of chromosomes was determined in two cases; and, based on phenotypic evidence we propose the parental origin in the other cases. One case with complex mixoploidy appears to have a digynic origin in addition to the involvement of two different sperm. Of our eight cases, only one resulted in the birth of a live healthy child. The other pregnancies ended in miscarriage, elective termination of pregnancy, intrauterine fetal demise or neonatal death. A review of the literature and the results of our cases show that a preponderance of recognized cases of diploid/triploid mixoploidy has a digynic origin.