Content of review 1, reviewed on February 19, 2015
The authors report on a neocentric sSMC(9); according to what they find they suggest that they identified a crtitcal region for patients with +inv dup(9) syndrome. Still there are (also at time of publicationof this paper) several reports in the literature with whole arm teratsomies of chromosome 9p which show a normal phenotype. So the conclusions should be made more carefully. Mosaicism and other factors ('genetic background'/ epigenetics) seem to play a role as well here.
Source
© 2015 the Reviewer (CC BY 4.0).
References
K., A. K., M., H. A., A., S. M., Z., S. M., S., E. T., Ghassan, Z., M., B. T. 2010. A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation. BMC Medical Genetics.
