19p13.13 Deletion Syndrome

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Yang, C. 19p13.13 Deletion Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/3927 (accessed on 25 September 2026).

Yang C. 19p13.13 Deletion Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/3927. Accessed September 25, 2026.

Yang, Catherine. "19p13.13 Deletion Syndrome" Encyclopedia, https://encyclopedia.pub/entry/3927 (accessed September 25, 2026).

Yang, C. (2020, December 23). 19p13.13 Deletion Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/3927

Yang, Catherine. "19p13.13 Deletion Syndrome." Encyclopedia. Web. 23 December, 2020.

19p13.13 Deletion Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome

19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 19 is deleted in each cell. The deletion occurs on the short (p) arm of the chromosome at a position designated p13.13

genetic conditions

References

Auvin S, Holder-Espinasse M, Lamblin MD, Andrieux J. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mentalretardation and epilepsy with infantile spasms. Epilepsia. 2009Nov;50(11):2501-3. doi: 10.1111/j.1528-1167.2009.02189.x.
Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B. Anovel microdeletion/microduplication syndrome of 19p13.13. Genet Med. 2010Aug;12(8):503-11. doi: 10.1097/GIM.0b013e3181e59291.
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D,Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M.Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletionencompassing NFIX gene and novel NFIX sequence variant. Biomed Pap Med Fac UnivPalacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006.
Jorge R, Silva C, Águeda S, Dória S, Leão M. Intellectual disability andovergrowth-A new case of 19p13.13 microdeletion syndrome with digitalabnormalities. Am J Med Genet A. 2015 Nov;167A(11):2839-43. doi:10.1002/ajmg.a.37280.
Lyon SM, Waggoner D, Halbach S, Thorland EC, Khorasani L, Reid RR. Syndromiccraniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.Genes Dis. 2015 Dec;2(4):347-352.
Lysy PA, Ravoet M, Wustefeld S, Bernard P, Nassogne MC, Wyns E, Sibille C. Anew case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion. Am JMed Genet A. 2009 Nov;149A(11):2564-8. doi: 10.1002/ajmg.a.33056.
Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljić S, Legeai-Mallet L, Carter NP,Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V. Distinct effectsof allelic NFIX mutations on nonsense-mediated mRNA decay engender either aSotos-like or a Marshall-Smith syndrome. Am J Hum Genet. 2010 Aug13;87(2):189-98. doi: 10.1016/j.ajhg.2010.07.001.
Nimmakayalu M, Horton VK, Darbro B, Patil SR, Alsayouf H, Keppler-Noreuil K,Shchelochkov OA. Apparent germline mosaicism for a novel 19p13.13 deletiondisrupting NFIX and CACNA1A. Am J Med Genet A. 2013 May;161A(5):1105-9. doi:10.1002/ajmg.a.35790.

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Subjects: Genetics & Heredity

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