3q29 Microdeletion Syndrome

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Yang, C. 3q29 Microdeletion Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4161 (accessed on 25 September 2026).

Yang C. 3q29 Microdeletion Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4161. Accessed September 25, 2026.

Yang, Catherine. "3q29 Microdeletion Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4161 (accessed September 25, 2026).

Yang, C. (2020, December 23). 3q29 Microdeletion Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4161

Yang, Catherine. "3q29 Microdeletion Syndrome." Encyclopedia. Web. 23 December, 2020.

3q29 Microdeletion Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/3q29-microdeletion-syndrome

3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a condition that results from the deletion of a small piece of chromosome 3 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q29.

genetic conditions

References

Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S,Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE,Zackai EH, Bejjani BA, Shaffer LG. Expanding the clinical phenotype of the 3q29microdeletion syndrome and characterization of the reciprocal microduplication.Mol Cytogenet. 2008 Apr 28;1:8. doi: 10.1186/1755-8166-1-8.
Biamino E, Di Gregorio E, Belligni EF, Keller R, Riberi E, Gandione M, Calcia A, Mancini C, Giorgio E, Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S,Cirillo Silengo M, Ferrero GB, Brusco A. A novel 3q29 deletion associated withautism, intellectual disability, psychiatric disorders, and obesity. Am J MedGenet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406.
Cox DM, Butler MG. A clinical case report and literature review of the 3q29microdeletion syndrome. Clin Dysmorphol. 2015 Jul;24(3):89-94. doi:10.1097/MCD.0000000000000077. Review.
Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG; Unique RareChromosome Disorder Support Group. Novel features of 3q29 deletion syndrome:Results from the 3q29 registry. Am J Med Genet A. 2016 Apr;170A(4):999-1006. doi:10.1002/ajmg.a.37537.
Mulle JG, Dodd AF, McGrath JA, Wolyniec PS, Mitchell AA, Shetty AC, SobreiraNL, Valle D, Rudd MK, Satten G, Cutler DJ, Pulver AE, Warren ST. Microdeletionsof 3q29 confer high risk for schizophrenia. Am J Hum Genet. 2010 Aug13;87(2):229-36. doi: 10.1016/j.ajhg.2010.07.013.
Mulle JG. The 3q29 deletion confers >40-fold increase in risk forschizophrenia. Mol Psychiatry. 2015 Sep;20(9):1028-9. doi: 10.1038/mp.2015.76.
Murphy MM, Lindsey Burrell T, Cubells JF, España RA, Gambello MJ, Goines KCB, Klaiman C, Li L, Novacek DM, Papetti A, Sanchez Russo RL, Saulnier CA, Shultz S, Walker E, Mulle JG. Study protocol for The Emory 3q29 Project: evaluation ofneurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome. BMC Psychiatry. 2018 Jun 8;18(1):183. doi: 10.1186/s12888-018-1760-5.
Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR,Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA,Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. 3q29 microdeletionsyndrome: clinical and molecular characterization of a new syndrome. Am J HumGenet. 2005 Jul;77(1):154-60.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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