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Sindroma e mikrodelecionit

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Binjakë në Poloni me sindromën e mikrodelecionit 22q11

Sindroma e mikrodelecionit është një sindromë e shkaktuar nga një fshirje kromozomale më e vogël se 5 milionë çifte bazash (5 Mb) që përfshin disa gjene që është shumë e vogël për t'u zbuluar me metoda konvencionale citogjenetike ose kariotip me rezolucion të lartë (2-5 Mb). [1] [2] Zbulimi bëhet me hibridizimin fluoreshent in situ (FISH). Sindromat më të mëdha të fshirjes kromozomale janë të dallueshme duke përdorur teknikat e kariotipit.

Shembuj

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Referime

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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. fq. 210–215. ISBN 0-7216-9347-4. {{cite book}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  2. ^ "Microdeletion syndrome". Genetics Home Reference. 17 prill 2014. Marrë më 19 prill 2014. {{cite web}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  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 mars 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. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  4. ^ a b Buiting, K; Saitoh, S; Gross, S; Dittrich, B; Schwartz, S; Nicholls, RD; Horsthemke, B (prill 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. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  5. ^ Runte, M; Varon, R; Horn, D; Horsthemke, B; Buiting, K (shkurt 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. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  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 (qershor 2010). "NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype". Human Mutation. 31 (6): E1506-18. doi:10.1002/humu.21271. PMID 20513137. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  7. ^ Rouleau, GA; Merel, P; Lutchman, M; Sanson, M; Zucman, J; Marineau, C; Hoang-Xuan, K; Demczuk, S; Desmaze, C; Plougastel, B (10 qershor 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. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  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. (maj 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. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  9. ^ Tassabehji, M; Metcalfe, K; Karmiloff-Smith, A; Carette, MJ; Grant, J; Dennis, N; Reardon, W; Splitt, M; Read, AP; Donnai, D (janar 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. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  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. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  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 (maj 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 186594. PMID 11997338. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  12. ^ Wójcik, C; Volz, K; Ranola, M; Kitch, K; Karim, T; O'Neil, J; Smith, J; Torres-Martinez, W (shkurt 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. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
  13. ^ Rauch, A; Schellmoser, S; Kraus, C; Dörr, HG; Trautmann, U; Altherr, MR; Pfeiffer, RA; Reis, A (1 prill 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. {{cite journal}}: Mungon ose është bosh parametri |language= (Ndihmë!)
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