Content of review 1, reviewed on February 17, 2015

Authors report in their paper many identified cases using subtelomeric MLPA approach, which is obviously a good tool for cases as shown in this paper. In Tab. 2 they show 3 marker cases; unfortunately all of them are not really solved by MLPA approach and the authors do not comment at all on this problem. This drawback of MLPA approach should have been mentioned as all three cases are still not solved and would need further studies by FISH-approaches. One case may be a del(21) or a neocentric sSMC derived from 21qter - which would be the first such case ever seen. One case can be derived from X or Y-chromosome and one case was not solved at all.

Source

    © 2015 the Reviewer (CC BY 4.0).

References

    Xiangnan, C., Huanzheng, L., Yijian, M., Xueqin, X., Jiaojiao, L., Lili, Z., Xiaoling, L., Shaohua, T. 2014. Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations. Molecular Cytogenetics.