Department of Pathology, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.
Pathol Res Pract. 2010 Nov 15;206(11):776-81. doi: 10.1016/j.prp.2010.02.013. Epub 2010 Apr 18.
Hydatidiform moles are gestational diseases with abnormal development of the villous trophoblast and characterized by an excess of paternal to maternal genetic material. Complete moles are usually diploid and androgenetic, and are thought to develop after the fertilization of an "empty ovum" by either a haploid spermatozoon or two spermatozoa. We report a case of a complete mole in which fluorescence in situ hybridization (FISH) incidentally disclosed trisomy 13. Microsatellite genotyping showed a single allele at each of the markers tested on the chorionic villi, and comparison with parental peripheral blood specimens revealed that the markers were all of paternal origin. These results confirmed the paternal origin of all three copies of chromosome 13, and the isodisomy for each chromosome was consistent with duplication of a monospermic fertilization event and subsequent non-disjunction. To the best of our knowledge, this is the only case of an androgenetic complete mole with trisomy 13 described in the scientific literature. We present a review of the literature and hypothesize that the trisomy 13 in our case likely resulted from non-disjunction of chromosome 13.
葡萄胎是一种绒毛滋养细胞异常发育的妊娠疾病，其特征是父源性遗传物质过多。完全性葡萄胎通常为二倍体和雄原核性，被认为是由单倍体精子或两个精子受精“空卵”后发育而来。我们报告了一例完全性葡萄胎，荧光原位杂交（FISH）偶然揭示三体 13。微卫星基因分型显示绒毛组织中每个标记均显示单个等位基因，与父母外周血标本比较显示标记均来自父系。这些结果证实了 13 号染色体的全部三个拷贝均来自父系，每条染色体的等基因性与单精子受精事件的重复和随后的不分离一致。据我们所知，这是科学文献中唯一描述的三体性 13 型雄原核性完全性葡萄胎病例。我们回顾了文献，并假设我们病例中的三体 13 可能是由于 13 号染色体不分离所致。
