Wikipedia

Microdeletion syndrome

A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb).[1][2] Detection is done by fluorescence in situ hybridization (FISH). Larger chromosomal deletion syndromes are detectable using karyotyping techniques.

Twins in Poland with 22q11 microdeletion syndrome

Examples

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References

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  1. ^ H. William Taeusch; Roberta A. Ballard; Christine A. Gleason; Mary Ellen Avery (2005). Avery's Diseases of the Newborn. Elsevier Health Sciences. pp. 210–215. ISBN 0-7216-9347-4.210-215&rft.pub=Elsevier Health Sciences&rft.date=2005&rft.isbn=0-7216-9347-4&rft.au=H. William Taeusch&rft.au=Roberta A. Ballard&rft.au=Christine A. Gleason&rft.au=Mary Ellen Avery&rft_id=https://books.google.com/books?id=UxELwb0iOt0C&pg=PA215&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">
  2. ^ "Microdeletion syndrome". Genetics Home Reference. 17 April 2014. Retrieved 19 April 2014.
  3. ^ Shaikh, TH; Kurahashi, H; Saitta, SC; O'Hare, AM; Hu, P; Roe, BA; Driscoll, DA; McDonald-McGinn, DM; Zackai, EH; Budarf, ML; Emanuel, BS (1 March 2000). "Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis". Human Molecular Genetics. 9 (4): 489–501. doi:10.1093/hmg/9.4.489. PMID 10699172.489-501&rft.date=2000-03-01&rft_id=info:doi/10.1093/hmg/9.4.489&rft_id=info:pmid/10699172&rft.aulast=Shaikh&rft.aufirst=TH&rft.au=Kurahashi, H&rft.au=Saitta, SC&rft.au=O'Hare, AM&rft.au=Hu, P&rft.au=Roe, BA&rft.au=Driscoll, DA&rft.au=McDonald-McGinn, DM&rft.au=Zackai, EH&rft.au=Budarf, ML&rft.au=Emanuel, BS&rft_id=https://doi.org/10.1093%2Fhmg%2F9.4.489&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">
  4. ^ a b Buiting, K; Saitoh, S; Gross, S; Dittrich, B; Schwartz, S; Nicholls, RD; Horsthemke, B (April 1995). "Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15". Nature Genetics. 9 (4): 395–400. doi:10.1038/ng0495-395. PMID 7795645. S2CID 7184110.395-400&rft.date=1995-04&rft_id=https://api.semanticscholar.org/CorpusID:7184110#id-name=S2CID&rft_id=info:pmid/7795645&rft_id=info:doi/10.1038/ng0495-395&rft.aulast=Buiting&rft.aufirst=K&rft.au=Saitoh, S&rft.au=Gross, S&rft.au=Dittrich, B&rft.au=Schwartz, S&rft.au=Nicholls, RD&rft.au=Horsthemke, B&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">
  5. ^ Runte, M; Varon, R; Horn, D; Horsthemke, B; Buiting, K (February 2005). "Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome". Human Genetics. 116 (3): 228–30. doi:10.1007/s00439-004-1219-2. PMID 15565282. S2CID 23190709.228-30&rft.date=2005-02&rft_id=https://api.semanticscholar.org/CorpusID:23190709#id-name=S2CID&rft_id=info:pmid/15565282&rft_id=info:doi/10.1007/s00439-004-1219-2&rft.aulast=Runte&rft.aufirst=M&rft.au=Varon, R&rft.au=Horn, D&rft.au=Horsthemke, B&rft.au=Buiting, K&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">
  6. ^ Pasmant, E; Sabbagh, A; Spurlock, G; Laurendeau, I; Grillo, E; Hamel, MJ; Martin, L; Barbarot, S; Leheup, B; Rodriguez, D; Lacombe, D; Dollfus, H; Pasquier, L; Isidor, B; Ferkal, S; Soulier, J; Sanson, M; Dieux-Coeslier, A; Bièche, I; Parfait, B; Vidaud, M; Wolkenstein, P; Upadhyaya, M; Vidaud, D; members of the NF France, Network (June 2010). "NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype". Human Mutation. 31 (6): E1506-18. doi:10.1002/humu.21271. PMID 20513137. S2CID 24525378.
  7. ^ Rouleau, GA; Merel, P; Lutchman, M; Sanson, M; Zucman, J; Marineau, C; Hoang-Xuan, K; Demczuk, S; Desmaze, C; Plougastel, B (10 June 1993). "Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2". Nature. 363 (6429): 515–21. Bibcode:1993Natur.363..515R. doi:10.1038/363515a0. PMID 8379998. S2CID 24532924.515-21&rft.date=1993-06-10&rft_id=info:doi/10.1038/363515a0&rft_id=https://api.semanticscholar.org/CorpusID:24532924#id-name=S2CID&rft_id=info:pmid/8379998&rft_id=info:bibcode/1993Natur.363..515R&rft.aulast=Rouleau&rft.aufirst=GA&rft.au=Merel, P&rft.au=Lutchman, M&rft.au=Sanson, M&rft.au=Zucman, J&rft.au=Marineau, C&rft.au=Hoang-Xuan, K&rft.au=Demczuk, S&rft.au=Desmaze, C&rft.au=Plougastel, B&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">
  8. ^ Beck, Megan; Peterson, Jess F.; McConnell, Juliann; McGuire, Marianne; Asato, Miya; Losee, Joseph E.; Surti, Urvashi; Madan-Khetarpal, Suneeta; Rajkovic, Aleksandar; Yatsenko, Svetlana A. (May 2015). "Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the gene". American Journal of Medical Genetics Part A. 167 (5): 1047–1053. doi:10.1002/ajmg.a.36839. PMID 25810350. S2CID 205319722.1047-1053&rft.date=2015-05&rft_id=https://api.semanticscholar.org/CorpusID:205319722#id-name=S2CID&rft_id=info:pmid/25810350&rft_id=info:doi/10.1002/ajmg.a.36839&rft.aulast=Beck&rft.aufirst=Megan&rft.au=Peterson, Jess F.&rft.au=McConnell, Juliann&rft.au=McGuire, Marianne&rft.au=Asato, Miya&rft.au=Losee, Joseph E.&rft.au=Surti, Urvashi&rft.au=Madan-Khetarpal, Suneeta&rft.au=Rajkovic, Aleksandar&rft.au=Yatsenko, Svetlana A.&rft_id=https://escholarship.org/uc/item/0vx445vv#page-1&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">
  9. ^ Tassabehji, M; Metcalfe, K; Karmiloff-Smith, A; Carette, MJ; Grant, J; Dennis, N; Reardon, W; Splitt, M; Read, AP; Donnai, D (January 1999). "Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes". American Journal of Human Genetics. 64 (1): 118–25. doi:10.1086/302214. PMC 1377709. PMID 9915950.118-25&rft.date=1999-01&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377709#id-name=PMC&rft_id=info:pmid/9915950&rft_id=info:doi/10.1086/302214&rft.aulast=Tassabehji&rft.aufirst=M&rft.au=Metcalfe, K&rft.au=Karmiloff-Smith, A&rft.au=Carette, MJ&rft.au=Grant, J&rft.au=Dennis, N&rft.au=Reardon, W&rft.au=Splitt, M&rft.au=Read, AP&rft.au=Donnai, D&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377709&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">
  10. ^ Huang, HC; Bautista, SL; Chen, BS; Chang, KP; Chen, YJ; Wuu, SW (1996). "Miller-Dieker syndrome with microdeletion of chromosome 17p13.3: report of one case". Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui. 38 (6): 472–6. PMID 9473821.472-6&rft.date=1996&rft_id=info:pmid/9473821&rft.aulast=Huang&rft.aufirst=HC&rft.au=Bautista, SL&rft.au=Chen, BS&rft.au=Chang, KP&rft.au=Chen, YJ&rft.au=Wuu, SW&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">
  11. ^ Bi, W; Yan, J; Stankiewicz, P; Park, SS; Walz, K; Boerkoel, CF; Potocki, L; Shaffer, LG; Devriendt, K; Nowaczyk, MJ; Inoue, K; Lupski, JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse". Genome Research. 12 (5): 713–28. doi:10.1101/gr.73702. PMC 186863. PMID 11997338.713-28&rft.date=2002-05&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC186863#id-name=PMC&rft_id=info:pmid/11997338&rft_id=info:doi/10.1101/gr.73702&rft.aulast=Bi&rft.aufirst=W&rft.au=Yan, J&rft.au=Stankiewicz, P&rft.au=Park, SS&rft.au=Walz, K&rft.au=Boerkoel, CF&rft.au=Potocki, L&rft.au=Shaffer, LG&rft.au=Devriendt, K&rft.au=Nowaczyk, MJ&rft.au=Inoue, K&rft.au=Lupski, JR&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC186863&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">
  12. ^ Wójcik, C; Volz, K; Ranola, M; Kitch, K; Karim, T; O'Neil, J; Smith, J; Torres-Martinez, W (February 2010). "Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?". American Journal of Medical Genetics Part A. 152A (2): 479–83. doi:10.1002/ajmg.a.33303. PMID 20101707. S2CID 205312346.479-83&rft.date=2010-02&rft_id=https://api.semanticscholar.org/CorpusID:205312346#id-name=S2CID&rft_id=info:pmid/20101707&rft_id=info:doi/10.1002/ajmg.a.33303&rft.aulast=Wójcik&rft.aufirst=C&rft.au=Volz, K&rft.au=Ranola, M&rft.au=Kitch, K&rft.au=Karim, T&rft.au=O'Neil, J&rft.au=Smith, J&rft.au=Torres-Martinez, W&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">
  13. ^ Rauch, A; Schellmoser, S; Kraus, C; Dörr, HG; Trautmann, U; Altherr, MR; Pfeiffer, RA; Reis, A (1 April 2001). "First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation". American Journal of Medical Genetics. 99 (4): 338–42. doi:10.1002/ajmg.1203. PMID 11252005.338-42&rft.date=2001-04-01&rft_id=info:doi/10.1002/ajmg.1203&rft_id=info:pmid/11252005&rft.aulast=Rauch&rft.aufirst=A&rft.au=Schellmoser, S&rft.au=Kraus, C&rft.au=Dörr, HG&rft.au=Trautmann, U&rft.au=Altherr, MR&rft.au=Pfeiffer, RA&rft.au=Reis, A&rfr_id=info:sid/en.wikipedia.org:Microdeletion syndrome" class="Z3988">

Further reading

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