22q13 deletion syndrome (English Wikipedia)

Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE (2015). "Letter to the editor regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome". Am J Med Genet A. 167 (7): 1679–80. doi:10.1002/ajmg.a.36788. PMID 26295085. S2CID 36651351.
Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, Blois MC, Heron D, Colleaux L (2008-08-01). "Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood". Pediatrics. 122 (2): e376 – e382. doi:10.1542/peds.2007-2584. ISSN 0031-4005. PMID 18625665. S2CID 3276179.
Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS (2011-11-01). "Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)". Journal of Medical Genetics. 48 (11): 761–766. doi:10.1136/jmedgenet-2011-100225. ISSN 1468-6244. PMID 21984749. S2CID 28620399.
Hannachi H, Mougou S, Benabdallah I, Soayh N, Kahloul N, Gaddour N, Le Lorc'h M, Sanlaville D, El Ghezal H (2013-01-01). "Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients". Cytogenetic and Genome Research. 140 (1): 1–11. doi:10.1159/000350785. ISSN 1424-859X. PMID 23635516. S2CID 25287674.
Cusmano-Ozog K, Manning MA, Hoyme HE (2007-11-15). "22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay". American Journal of Medical Genetics Part C. 145C (4): 393–398. doi:10.1002/ajmg.c.30155. ISSN 1552-4876. PMID 17926345. S2CID 25733076.
Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS (2011-09-01). "Growth in Phelan-McDermid syndrome". American Journal of Medical Genetics Part A. 155A (9): 2324–2326. doi:10.1002/ajmg.a.34158. ISSN 1552-4833. PMID 21834045. S2CID 20565974.
Sarasua SM, et al. (2011). "Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)". J Med Genet. 48 (11): 761–6. doi:10.1136/jmedgenet-2011-100225. PMID 21984749. S2CID 28620399.
Simenson K, et al. (2013). "A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region". Am J Med Genet A. 164A (3): 806–9. doi:10.1002/ajmg.a.36358. PMID 24375995. S2CID 7917552.
Disciglio V, et al. (2014). "Interstitial 22q13 Deletions Not Involving SHANK3 Gene: A New Contiguous Gene Syndrome". Am J Med Genet A. 164 (7): 1666–76. doi:10.1002/ajmg.a.36513. PMID 24700646. S2CID 205318899.
Sarasua SM, et al. (2014). "Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome". Human Genetics. 133 (7): 847–59. doi:10.1007/s00439-014-1423-7. PMID 24481935. S2CID 2910785.
Schaefer GB, Mendelsohn NJ, Committee for the Professional Practice and Guidelines (2013-05-01). "Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions". Genetics in Medicine. 15 (5): 399–407. doi:10.1038/gim.2013.32. ISSN 1098-3600. PMID 23519317. S2CID 2374142.
Jeffries AR, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, Powell J (2005-08-30). "Molecular and phenotypic characterization of ring chromosome 22". American Journal of Medical Genetics Part A. 137 (2): 139–147. doi:10.1002/ajmg.a.30780. ISSN 1552-4825. PMID 16059935. S2CID 21211829.
Anderlid BM, Schoumans J, Annerén G, Tapia-Paez I, Dumanski J, Blennow E, Nordenskjöld M (2002-05-01). "FISH-mapping of a 100-kb terminal 22q13 deletion". Human Genetics. 110 (5): 439–443. doi:10.1007/s00439-002-0713-7. ISSN 0340-6717. PMID 12073014. S2CID 6018914.

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"Human Gene Module".

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"UCSC Genome Browser Home". genome.ucsc.edu.
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"OMIM - Online Mendelian Inheritance in Man". omim.org. Archived from the original on October 26, 2011.

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Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K (2014-04-01). "22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome". Genetics in Medicine. 16 (4): 318–328. doi:10.1038/gim.2013.144. ISSN 1530-0366. PMID 24136618.
Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, Blois MC, Heron D, Colleaux L (2008-08-01). "Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood". Pediatrics. 122 (2): e376 – e382. doi:10.1542/peds.2007-2584. ISSN 0031-4005. PMID 18625665. S2CID 3276179.
Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS (2011-11-01). "Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)". Journal of Medical Genetics. 48 (11): 761–766. doi:10.1136/jmedgenet-2011-100225. ISSN 1468-6244. PMID 21984749. S2CID 28620399.
Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G (2003-09-01). "Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations". Journal of Medical Genetics. 40 (9): 690–696. doi:10.1136/jmg.40.9.690. ISSN 1468-6244. PMC 1735584. PMID 12960216.
Kolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, Rapaport R, Saland J, Srivastava S (2014-01-01). "Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring". Journal of Neurodevelopmental Disorders. 6 (1): 39. doi:10.1186/1866-1955-6-39. ISSN 1866-1947. PMC 4362650. PMID 25784960.
Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE (2004-08-01). "Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum". Pediatrics. 114 (2): 451–457. doi:10.1542/peds.114.2.451. ISSN 1098-4275. PMID 15286229.
Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF, French BN, McDermid HE (1994-03-01). "Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3". American Journal of Human Genetics. 54 (3): 464–472. ISSN 0002-9297. PMC 1918126. PMID 7906921.
Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA (2005-09-01). "Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation". European Journal of Human Genetics. 13 (9): 1019–1024. doi:10.1038/sj.ejhg.5201456. ISSN 1018-4813. PMID 15986041.
Hannachi H, Mougou S, Benabdallah I, Soayh N, Kahloul N, Gaddour N, Le Lorc'h M, Sanlaville D, El Ghezal H (2013-01-01). "Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients". Cytogenetic and Genome Research. 140 (1): 1–11. doi:10.1159/000350785. ISSN 1424-859X. PMID 23635516. S2CID 25287674.
Cusmano-Ozog K, Manning MA, Hoyme HE (2007-11-15). "22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay". American Journal of Medical Genetics Part C. 145C (4): 393–398. doi:10.1002/ajmg.c.30155. ISSN 1552-4876. PMID 17926345. S2CID 25733076.
Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS (2011-09-01). "Growth in Phelan-McDermid syndrome". American Journal of Medical Genetics Part A. 155A (9): 2324–2326. doi:10.1002/ajmg.a.34158. ISSN 1552-4833. PMID 21834045. S2CID 20565974.
Dhar S, del Gaudio D, German J, Peters S, Ou Z, Bader P, Berg J, Blazo M, Brown C (2010-03-01). "22q13.3 Deletion Syndrome: Clinical and Molecular Analysis Using Array CGH". American Journal of Medical Genetics Part A. 152A (3): 573–581. doi:10.1002/ajmg.a.33253. ISSN 1552-4825. PMC 3119894. PMID 20186804.
Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC (2007-01-01). "Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders". Nature Genetics. 39 (1): 25–27. doi:10.1038/ng1933. ISSN 1061-4036. PMC 2082049. PMID 17173049.
Schaefer GB, Mendelsohn NJ, Committee for the Professional Practice and Guidelines (2013-05-01). "Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions". Genetics in Medicine. 15 (5): 399–407. doi:10.1038/gim.2013.32. ISSN 1098-3600. PMID 23519317. S2CID 2374142.
Manning M, Hudgins L (2010-11-01). "Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities". Genetics in Medicine. 12 (11): 742–745. doi:10.1097/GIM.0b013e3181f8baad. ISSN 1098-3600. PMC 3111046. PMID 20962661.
Phelan K, Betancur C (2011-04-01). "Clinical utility gene card for: Deletion 22q13 syndrome". European Journal of Human Genetics. 19 (4): 492. doi:10.1038/ejhg.2010.193. ISSN 1018-4813. PMC 3060317. PMID 21150887.
Kirkpatrick BE, El-Khechen D (2011-01-01). "A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor". Clinical Dysmorphology. 20 (1): 53–54. doi:10.1097/MCD.0b013e32833effb1. ISSN 1473-5717. PMID 20827177.
Jeffries AR, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, Powell J (2005-08-30). "Molecular and phenotypic characterization of ring chromosome 22". American Journal of Medical Genetics Part A. 137 (2): 139–147. doi:10.1002/ajmg.a.30780. ISSN 1552-4825. PMID 16059935. S2CID 21211829.
Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW (2010-03-01). "22q13.3 deletion syndrome: clinical and molecular analysis using array CGH". American Journal of Medical Genetics Part A. 152A (3): 573–581. doi:10.1002/ajmg.a.33253. ISSN 1552-4833. PMC 3119894. PMID 20186804.
Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE (2015-08-27). "Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype–phenotype correlations". Orphanet Journal of Rare Diseases. 10 (1): 105. doi:10.1186/s13023-015-0323-9. ISSN 1750-1172. PMC 4549933. PMID 26306707.
Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M (2013-03-01). "Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders". European Journal of Human Genetics. 21 (3): 310–316. doi:10.1038/ejhg.2012.175. ISSN 1018-4813. PMC 3573207. PMID 22892527.
Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS (1985-08-01). "A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome". Journal of Medical Genetics. 22 (4): 283–287. doi:10.1136/jmg.22.4.283. ISSN 0022-2593. PMC 1049449. PMID 4045954.
Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O (2001-08-01). "Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome". American Journal of Human Genetics. 69 (2): 261–268. doi:10.1086/321293. ISSN 0002-9297. PMC 1235301. PMID 11431708.
Anderlid BM, Schoumans J, Annerén G, Tapia-Paez I, Dumanski J, Blennow E, Nordenskjöld M (2002-05-01). "FISH-mapping of a 100-kb terminal 22q13 deletion". Human Genetics. 110 (5): 439–443. doi:10.1007/s00439-002-0713-7. ISSN 0340-6717. PMID 12073014. S2CID 6018914.
Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE (2003-08-01). "Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms". Journal of Medical Genetics. 40 (8): 575–584. doi:10.1136/jmg.40.8.575. ISSN 1468-6244. PMC 1735560. PMID 12920066.