Mosaic Monosomy 22

Monosomy 22 / Mosaic Monosomy 22

Most humans have 46 chromosomes in each cell of their body: a pair each of chromosomes 1 through 22, in addition to two sex chromosomes – two X chromosomes to be female, and an XY pair if you are male. A monosomy occurs when one chromosome in a pair is absent from the cell. In the case of monosomy 22, one chromosome 22 is missing, leaving 45 chromosomes in each cell of a person’s body, instead of the usual 46. A mosaic form of monosomy means that one chromosome is missing in only some cells.

Monosomy 22 / Mosaic Monosomy 22 are very rare events. Only a handful of reported cases have been noted in medical literature. Of those, very few have survived past infancy, presenting with various issues including delayed development, unusual facial features, differences in muscle tone, absent thymus, heart defects and failure to thrive.

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References

DeCicco, F., Steele, M. W., Pan, S., & Park, S. C. (1973). Monosomy of chromosome No. 22. A case report. The Journal of Pediatrics, 83(5), 836–838. https://doi.org/10.1016/s0022-3476(73)80382-8 

Kashevarova, A. A., Belyaeva, E. O., Nikonov, A. M., Plotnikova, O. V., Skryabin, N. A., Nikitina, T. V., Vasilyev, S. A., Yakovleva, Y. S., Babushkina, N. P., Tolmacheva, E. N., Lopatkina, M. E., Savchenko, R. R., Nazarenko, L. P., & Lebedev, I. N. (2018). Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22. Molecular Cytogenetics, 11, 26. https://doi.org/10.1186/s13039-018-0375-3 

Lewinsky, R. M., Johnson, J. M., Lao, T. T., Winsor, E. J., & Cohen, H. (1990). Fetal gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow. Prenatal Diagnosis, 10(9), 605–608. https://doi.org/10.1002/pd.1970100909

Merino, A., De Perdigo, A., Nomballais, F., Yvinec, M., & Lopes, P. (1995). Digeorge syndrome with total monosomy 22 diagnosed prenatally. Prenatal Diagnosis, 15(2), 189–192. https://doi.org/10.1002/pd.1970150215

Moghe, M. S., Patel, Z. M., Peter, J. J., & Ambani, L. M. (1981). Monosomy 22 with mosaicism. Journal of Medical Genetics, 18(1), 71–73. https://doi.org/10.1136/jmg.18.1.71 

Pinto-Escalante, D., Ceballos-Quintal, J. M., Castillo-Zapata, I., & Canto-Herrera, J. (1998). Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance. American Journal of Medical Genetics, 76(2), 150–153. https://doi.org/10.1002/(sici)1096-8628(19980305)76:2

Sabui, Tapas & Chakraborty, A. (1997). Monosomy 22 Mosaicism. Indian Pediatrics. 34. 348-52. PDF ONLINE

Verloes, A., Herens, C., Lambotte, C., & Frederic, J. (1987). Chromosome 22 mosaic monosomy (46,XY/45,XY,-22). Annales de Génétique, 30(3), 178–179. https://pubmed.ncbi.nlm.nih.gov/3499857/