Chromosome 22 Central

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Chromosome 22 Central

22q13 Duplication

22q13 Duplication

The 22q13 duplication is a rare condition with very few reported cases. People affected can present very differently, but generally, the condition can result in intellectual disability and differences in physical features including short stature and delays in growth, microcephaly, cleft lip or palate, defects of the heart, and low muscle tone (hypotonia). The condition can arise spontaneously (de novo event) or result from changes in a parent’s chromosomes. 

You can find additional information and support from the Phelan McDermid Syndrome Foundation.

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Select References

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 

Feenstra, I., Koolen, D. A., Van der Pas, J., Hamel, B. C., Mieloo, H., Smeets, D. F., & Van Ravenswaaij, C. M. (2006). Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature. European journal of medical genetics, 49(5), 384–395. https://doi.org/10.1016/j.ejmg.2006.01.005

Magri, C., Marchina, E., Bertini, V., Traversa, M., Savio, G., Pilotta, A., & Piovani, G. (2015). SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement. BMC Medical Genetics, 16, 47. https://doi.org/10.1186/s12881-015-0193-y 

Granocchio, E., Pollina, E., De Salvatore, M., Scopelliti, M. R., Tanzi, G., Sciacca, F. L., D’Arrigo, S., & Ciaccio, C. (2024). 22q13.33 duplication involving SHANK3 gene: a boy and his mother with “persistent” language and speech sound disorder. Psychiatric Genetics, 34(1), 19–23. https://doi.org/10.1097/YPG.0000000000000355 

Lévy, J., Cogan, G., Maruani, A., Maillard, A., Dupont, C., Drunat, S., Rachid, M., Atzori, P., Delorme, R., Jeyarajah, S., Isidor, B., Pichon, O., Moradkhani, K., Verloes, A., & Tabet, A. C. (2022). Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder. Clinical Genetics, 101(3), 364–370. https://doi.org/10.1111/cge.14099 

Peeters, H., Vermeesch, J., & Fryns, J. P. (2008). A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism. Genetic counseling (Geneva, Switzerland), 19(4), 365–371. 

Rahikkala, E., Forsström, L. M., Kokkonen, H., Knuutila, S., Mustonen, A., & Ignatius, J. (2013). Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation. European Journal of Medical Genetics, 56(7), 389–396. https://doi.org/10.1016/j.ejmg.2013.05.004 

Ujfalusi, A., Nagy, O., Bessenyei, B., Lente, G., Kántor, I., Borbély, Á. J., & Szakszon, K. (2020). 22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum. Molecular Syndromology, 11(3), 146–152. https://doi.org/10.1159/000507103