माइक्रोडिलीशन सिंड्रोम: Difference between revisions

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[[Category: Machine Translated Page]]
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[[Category:Created On 10/08/2023]]
[[Category:Created On 10/08/2023]]
[[Category:Vigyan Ready]]

Latest revision as of 19:10, 3 October 2023

माइक्रोडिलीशन सिंड्रोम है जो अनेक जीनों में फैले 5 मिलियन बेस पेयर (5 एमबी) से छोटे क्रोमोसोमल डीलेसन (आनुवांशिकी) के कारण होता है जो पारंपरिक साइटोजेनेटिक उपाय या उच्च रिज़ॉल्यूशन कैरियोटाइपिंग (2-5 एमबी) द्वारा ज्ञात करने के लिए बहुत छोटा है।[1][2] जांच फ्लोरसेंस इन सीटू हाइब्रिडाईजेशन (फिश) द्वारा की जाती है। कैरियोटाइपिंग विधि का उपयोग करके बड़े क्रोमोसोमल विलोपन सिंड्रोम का पता लगाया जा सकता है।

उदाहरण


संदर्भ

  1. H. William Taeusch; Roberta A. Ballard; Christine A. Gleason; Mary Ellen Avery (2005). नवजात शिशु के एवरी रोग. Elsevier Health Sciences. pp. 210–215. ISBN 0-7216-9347-4.
  2. "माइक्रोडिलीशन सिंड्रोम". 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.
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  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.
  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.
  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.
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  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 186594. PMID 11997338.
  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.
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