Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Conclusion
Mosaicism in the proband, his half-sister and half-cousin resulting from loss of chromosome 21 material from the der(8) appears to be a postzygotic event due to the genomic instability of ITS and associated with selective growth advantage of normal cells. The reversion of the inherited der(8) to a normal chromosome 8 in this family resembles revertant mosaicism of point mutations. We propose that ITS could mediate recurring revertant mosaicism for some constitutional chromosomal structural abnormalities.

Source: Journal of Medical Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Bi, W., Yuan, B., Liu, P., Murry, J. B., Qin, X., Xia, F., Quach, T., Cooper, L. M., Wiszniewska, J., Hixson, P., Peacock, S., Tonk, V. S., Huff, R. W., Ortega, V., Lupski, J. R., Scherer, S. E., Littlejohn, R. O., Velagaleti, G. V. N., Roeder, E. R., Che Tags: Chromosomal rearrangements Source Type: research