9q22.3 Microdeletion

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Yang, C. 9q22.3 Microdeletion. Encyclopedia. Available online: https://encyclopedia.pub/entry/4268 (accessed on 26 September 2026).

Yang C. 9q22.3 Microdeletion. Encyclopedia. Available at: https://encyclopedia.pub/entry/4268. Accessed September 26, 2026.

Yang, Catherine. "9q22.3 Microdeletion" Encyclopedia, https://encyclopedia.pub/entry/4268 (accessed September 26, 2026).

Yang, C. (2020, December 23). 9q22.3 Microdeletion. In Encyclopedia. https://encyclopedia.pub/entry/4268

Yang, Catherine. "9q22.3 Microdeletion." Encyclopedia. Web. 23 December, 2020.

9q22.3 Microdeletion

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/9q223-microdeletion

9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.

genetic conditions

References

Evans DG, Farndon PA. Nevoid Basal Cell Carcinoma Syndrome. 2002 Jun 20[updated 2018 Mar 29]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1151/
Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA,Stockton DW, Hudgins L. Microdeletion 9q22.3 syndrome includes metopiccraniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J MedGenet A. 2012 Feb;158A(2):391-9. doi: 10.1002/ajmg.a.34216.
Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, CarterNP, Cormier-Daire V, Colleaux L. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J HumGenet. 2006 Jun;14(6):759-67.
Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T. Clinicalfeatures of microdeletion 9q22.3 (pat). Clin Genet. 2009 Apr;75(4):384-93. doi:10.1111/j.1399-0004.2008.01141.x.
Yamamoto K, Yoshihashi H, Furuya N, Adachi M, Ito S, Tanaka Y, Masuno M, ChiyoH, Kurosawa K. Further delineation of 9q22 deletion syndrome associated withbasal cell nevus (Gorlin) syndrome: report of two cases and review of theliterature. Congenit Anom (Kyoto). 2009 Mar;49(1):8-14. doi:10.1111/j.1741-4520.2008.00212.x.

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Subjects: Genetics & Heredity

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