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Publication

Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

Summary

Case report (n = 1) of 2yo female with invdupdel 8p. Both aberrant chromosomes were generated independently. Mosaics may be of meitotic origin.

Author

Vermeesch, J. R., Thoelen, R., Salden, I., Raes, M., Matthijs, G., & Fryns, J.-P. (2003). Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p <em>OR</em> gene and an independent terminal deletion event. J Med Genet, 40(8), e93-e93. doi:10.1136/jmg.40.8.e93