22q12 del/dup

22q12 Deletion and 22q12 Duplication

Deletions and Duplications of the 22q12 region of chromosome 22 are rare. There are few reports and limited medical information on people who are affected. These disorders occur when one copy of a person’s chromosome 22 has either extra (for duplication) or missing (for deletion) genes on the 22q12 region of chromosome 22. Like every chromosome disorder, even people with the same condition can be affected differently. For disorders that are not well documented, families may benefit from connecting to others.

Below are links to additional resources and articles.

UNIQUE Pamphlet on 22q12 and 22q13 duplications
We have started a Facebook group specific to 22q12 and 22q13 duplication.
See C22C’s main Facebook Group to connect with other families.

Select References

22q12 duplication

Deepika, M., Tella, S., Avvari, S., Pratibha, N., & Ananthapur, V. (2022). A Rare Case of Dysmorphism with Duplication in Chromosome 22. Indian Journal of Clinical Biochemistry : IJCB, 37(4), 504–506. https://doi.org/10.1007/s12291-020-00945-y

Huang, X., Xie, Y., & Fang, Q. (2017). 22q12.3 microduplication overlapping the LARGE gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder. Biomedical Reports, 7(1), 51–55. https://doi.org/10.3892/br.2017.923

22q12 deletion

Beck, M., Peterson, J. F., McConnell, J., McGuire, M., Asato, M., Losee, J. E., Surti, U., Madan-Khetarpal, S., Rajkovic, A., & Yatsenko, S. A. (2015). Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene. American Journal of Medical Genetics. Part A, 167A(5), 1047–1053. https://doi.org/10.1002/ajmg.a.36839

Bosson, C., Devillard, F., Satre, V., Dieterich, K., Ray, P. F., Morand, B., Dubois-Teklali, F., Vieville, G., Andrieux, J., Brouillet, S., Amblard, F., Jouk, P. S., & Coutton, C. (2016). Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies. American Journal of Medical Genetics. Part A, 170A(2), 498–503. https://doi.org/10.1002/ajmg.a.37450

Breckpot, J., Anderlid, B. M., Alanay, Y., Blyth, M., Brahimi, A., Duban-Bedu, B., Gozé, O., Firth, H., Yakicier, M. C., Hens, G., Rayyan, M., Legius, E., Vermeesch, J. R., & Devriendt, K. (2016). Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate. European Journal of Human Genetics : EJHG, 24(1), 51–58. https://doi.org/10.1038/ejhg.2015.65

Davidson, T. B., Sanchez-Lara, P. A., Randolph, L. M., Krieger, M. D., Wu, S. Q., Panigrahy, A., Shimada, H., & Erdreich-Epstein, A. (2012). Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. BMC Medical Genetics, 13, 19. https://doi.org/10.1186/1471-2350-13-19

Saito, S., Ono, N., Sasaki, T., Aoki, S., Kosaki, K., Kuze, B., Nakabayashi, K., Amagai, M., & Kubo, A. (2022). Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1. Journal of Human Genetics, 67(11), 675–678. https://doi.org/10.1038/s10038-022-01068-3

Trizuljak, J., Duben, J., Blaháková, I., Vrzalová, Z., Kozubík, K. S., Štika, J., Radová, L., Bergerová, V., Mejstříková, S., Hořínová, V., Jančálek, R., Pospíšilová, Š., & Doubek, M. (2023). Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy. Molecular Syndromology, 14(5), 439–448. https://doi.org/10.1159/000528744

Tritto, V., Eoli, M., Paterra, R., Redaelli, S., Moscatelli, M., Rusconi, F., & Riva, P. (2022). Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes. International Journal of Molecular Sciences, 23(17), 10017. https://doi.org/10.3390/ijms231710017

Zhang, W., Xiao, L., Chen, B., Xu, Y., & Yan, N. (2021). 22q12.3-q13.1 microdeletion including SOX10 causes atypical Waardenburg syndrome. European Journal of Ophthalmology, 31(4), 2127–2134. https://doi.org/10.1177/1120672120944350