Jelsig Anne Marie, Brøndum-Nielsen Karen, Tümer Asuram Zeynep
Ugeskr Laeger. 2018 Jun 4;180(23).
During chromosome analysis the finding of few cells with X-chromosome aneuploidy in a phenotypically normal woman is not unusual - so-called low-grade mosaicism for X aneuploidy (LLX-A). Such results can be difficult to interpret. In this review, LLX-A and its clinical implications are discussed, and based on the current literature it can be concluded, that LLX-A is an age-related phenomenon not related to reproductive issues such as recurrent abortions. This should be taken into account in any laboratory performing chromosome analysis.
在染色体分析过程中，在表型正常的女性中发现少数具有X染色体非整倍体的细胞并不罕见——即所谓的X染色体非整倍体低级别嵌合体（LLX-A）。这样的结果可能难以解释。在这篇综述中，讨论了LLX-A及其临床意义，基于当前文献可以得出结论，LLX-A是一种与年龄相关的现象，与反复流产等生殖问题无关。任何进行染色体分析的实验室都应考虑到这一点。
