Lubs H A, Watson M, Breg R, Lujan E
Am J Med Genet. 1984 Jan;17(1):133-44. doi: 10.1002/ajmg.1320170108.
Restudy of the original marker-X family confirmed recent observations that this XLMR disorder is associated with large testes and slightly abnormal ears. However, other aspects of the phenotype were variable and a distinct facies was not evident. Significant differences in marker-X frequency between two laboratories processing the same samples were observed. Possibly, the combination of more cells and a longer culture time in one laboratory led to a greater depletion of critical nutrients and a higher frequency of the marker-X, but additional studies are needed. No evidence was found of a diminishing frequency of the marker-X over a 15 year period.
对原始标记-X家族的重新研究证实了最近的观察结果，即这种X连锁智力低下疾病与睾丸增大和耳朵轻度异常有关。然而，该表型的其他方面存在差异，且没有明显的独特面容。在处理相同样本的两个实验室之间观察到标记-X频率存在显著差异。可能是一个实验室中更多的细胞和更长的培养时间导致关键营养物质的消耗更大，从而使标记-X的频率更高，但还需要进一步的研究。没有发现标记-X在15年期间频率下降的证据。
