माइक्रोडिलीशन सिंड्रोम: Difference between revisions

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{{Short description|Syndrome caused by chromosomal deletion}}
{{Short description|Syndrome caused by chromosomal deletion}}
माइक्रोडिलीशन सिंड्रोम एक सिंड्रोम है जो कई जीनों में फैले 5 मिलियन बेस पेयर (5 एमबी) से छोटे क्रोमोसोमल [[ विलोपन (आनुवांशिकी) ]] के कारण होता है जो पारंपरिक साइटोजेनेटिक तरीकों या उच्च रिज़ॉल्यूशन कैरियोटाइपिंग (2-5 एमबी) द्वारा पता लगाने के लिए बहुत छोटा है।<ref name="TaeuschBallard2005">{{cite book|author1=H. William Taeusch|author2=Roberta A. Ballard|author3=Christine A. Gleason|author4=Mary Ellen Avery|title=नवजात शिशु के एवरी रोग|url=https://books.google.com/books?id=UxELwb0iOt0C&pg=PA215|year=2005|publisher=Elsevier Health Sciences|isbn=0-7216-9347-4|pages=210–215}}</ref><ref>{{cite web|title=माइक्रोडिलीशन सिंड्रोम|url=http://ghr.nlm.nih.gov/glossary=microdeletionsyndrome|publisher=Genetics Home Reference|accessdate=19 April 2014|date=17 April 2014}}</ref> जांच प्रतिदीप्ति इन सीटू हाइब्रिडाइजेशन (फिश) द्वारा की जाती है। कैरियोटाइपिंग#कैरियोटाइप्स तकनीक का उपयोग करके बड़े [[क्रोमोसोमल विलोपन सिंड्रोम]] का पता लगाया जा सकता है।
'''माइक्रोडिलीशन सिंड्रोम''' है जो अनेक जीनों में फैले 5 मिलियन बेस पेयर (5 एमबी) से छोटे क्रोमोसोमल [[ विलोपन (आनुवांशिकी) |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।<ref name="TaeuschBallard2005">{{cite book|author1=H. William Taeusch|author2=Roberta A. Ballard|author3=Christine A. Gleason|author4=Mary Ellen Avery|title=नवजात शिशु के एवरी रोग|url=https://books.google.com/books?id=UxELwb0iOt0C&pg=PA215|year=2005|publisher=Elsevier Health Sciences|isbn=0-7216-9347-4|pages=210–215}}</ref><ref>{{cite web|title=माइक्रोडिलीशन सिंड्रोम|url=http://ghr.nlm.nih.gov/glossary=microdeletionsyndrome|publisher=Genetics Home Reference|accessdate=19 April 2014|date=17 April 2014}}</ref> 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==
==उदाहरण                                                                                                                                                       ==
* [[डिजॉर्ज सिंड्रोम]] या वेलोकार्डियोफेशियल सिंड्रोम<ref>{{cite journal|last1=Shaikh|first1=TH|last2=Kurahashi|first2=H|last3=Saitta|first3=SC|last4=O'Hare|first4=AM|last5=Hu|first5=P|last6=Roe|first6=BA|last7=Driscoll|first7=DA|last8=McDonald-McGinn|first8=DM|last9=Zackai|first9=EH|last10=Budarf|first10=ML|last11=Emanuel|first11=BS|title=Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.|journal=Human Molecular Genetics|date=1 March 2000|volume=9|issue=4|pages=489–501|doi=10.1093/hmg/9.4.489|pmid=10699172|doi-access=free}}</ref> - सबसे आम माइक्रोडिलीशन सिंड्रोम
* [[डिजॉर्ज सिंड्रोम]] या वेलोकार्डियोफेशियल सिंड्रोम <ref>{{cite journal|last1=Shaikh|first1=TH|last2=Kurahashi|first2=H|last3=Saitta|first3=SC|last4=O'Hare|first4=AM|last5=Hu|first5=P|last6=Roe|first6=BA|last7=Driscoll|first7=DA|last8=McDonald-McGinn|first8=DM|last9=Zackai|first9=EH|last10=Budarf|first10=ML|last11=Emanuel|first11=BS|title=Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.|journal=Human Molecular Genetics|date=1 March 2000|volume=9|issue=4|pages=489–501|doi=10.1093/hmg/9.4.489|pmid=10699172|doi-access=free}}</ref> - सबसे सामान्य माइक्रोडिलीशन सिंड्रोम
* प्रेडर-विली सिंड्रोम<ref name="pmid7795645">{{cite journal|last1=Buiting|first1=K|last2=Saitoh|first2=S|last3=Gross|first3=S|last4=Dittrich|first4=B|last5=Schwartz|first5=S|last6=Nicholls|first6=RD|last7=Horsthemke|first7=B|title=Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.|journal=Nature Genetics|date=April 1995|volume=9|issue=4|pages=395–400|pmid=7795645|doi=10.1038/ng0495-395|s2cid=7184110}}</ref><ref>{{cite journal|last1=Runte|first1=M|last2=Varon|first2=R|last3=Horn|first3=D|last4=Horsthemke|first4=B|last5=Buiting|first5=K|title=Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome.|journal=Human Genetics|date=February 2005|volume=116|issue=3|pages=228–30|doi=10.1007/s00439-004-1219-2|pmid=15565282|s2cid=23190709}}</ref>
* प्रेडर-विली सिंड्रोम<ref name="pmid7795645">{{cite journal|last1=Buiting|first1=K|last2=Saitoh|first2=S|last3=Gross|first3=S|last4=Dittrich|first4=B|last5=Schwartz|first5=S|last6=Nicholls|first6=RD|last7=Horsthemke|first7=B|title=Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.|journal=Nature Genetics|date=April 1995|volume=9|issue=4|pages=395–400|pmid=7795645|doi=10.1038/ng0495-395|s2cid=7184110}}</ref><ref>{{cite journal|last1=Runte|first1=M|last2=Varon|first2=R|last3=Horn|first3=D|last4=Horsthemke|first4=B|last5=Buiting|first5=K|title=Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome.|journal=Human Genetics|date=February 2005|volume=116|issue=3|pages=228–30|doi=10.1007/s00439-004-1219-2|pmid=15565282|s2cid=23190709}}</ref>
* [[एंजेलमैन सदस्यता]]<ref name="pmid7795645"/>* [[न्यूरोफाइब्रोमैटोसिस प्रकार I]]<ref>{{cite journal|last1=Pasmant|first1=E|last2=Sabbagh|first2=A|last3=Spurlock|first3=G|last4=Laurendeau|first4=I|last5=Grillo|first5=E|last6=Hamel|first6=MJ|last7=Martin|first7=L|last8=Barbarot|first8=S|last9=Leheup|first9=B|last10=Rodriguez|first10=D|last11=Lacombe|first11=D|last12=Dollfus|first12=H|last13=Pasquier|first13=L|last14=Isidor|first14=B|last15=Ferkal|first15=S|last16=Soulier|first16=J|last17=Sanson|first17=M|last18=Dieux-Coeslier|first18=A|last19=Bièche|first19=I|last20=Parfait|first20=B|last21=Vidaud|first21=M|last22=Wolkenstein|first22=P|last23=Upadhyaya|first23=M|last24=Vidaud|first24=D|last25=members of the NF France|first25=Network|title=NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.|journal=Human Mutation|date=June 2010|volume=31|issue=6|pages=E1506-18|pmid=20513137|doi=10.1002/humu.21271|s2cid=24525378|url=https://hal.archives-ouvertes.fr/hal-00552390/document|doi-access=free}}</ref>
* [[एंजेलमैन सदस्यता|एंजेलमैन सिंड्रोम]]<ref name="pmid7795645"/>
* [[न्यूरोफाइब्रोमैटोसिस प्रकार II]]<ref>{{cite journal|last1=Rouleau|first1=GA|last2=Merel|first2=P|last3=Lutchman|first3=M|last4=Sanson|first4=M|last5=Zucman|first5=J|last6=Marineau|first6=C|last7=Hoang-Xuan|first7=K|last8=Demczuk|first8=S|last9=Desmaze|first9=C|last10=Plougastel|first10=B|title=Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.|journal=Nature|date=10 June 1993|volume=363|issue=6429|pages=515–21|doi=10.1038/363515a0|pmid=8379998|bibcode=1993Natur.363..515R|s2cid=24532924}}</ref><ref>{{cite journal|last1=Beck|first1=Megan|last2=Peterson|first2=Jess F.|last3=McConnell|first3=Juliann|last4=McGuire|first4=Marianne|last5=Asato|first5=Miya|last6=Losee|first6=Joseph E.|last7=Surti|first7=Urvashi|last8=Madan-Khetarpal|first8=Suneeta|last9=Rajkovic|first9=Aleksandar|last10=Yatsenko|first10=Svetlana A.|title=Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the gene|journal=American Journal of Medical Genetics Part A|date=May 2015|volume=167|issue=5|pages=1047–1053|doi=10.1002/ajmg.a.36839|url=https://escholarship.org/uc/item/0vx445vv#page-1|pmid=25810350|s2cid=205319722}}</ref>
*[[न्यूरोफाइब्रोमैटोसिस प्रकार I|न्यूरोफाइब्रोमैटोसिस टाइप]]<ref>{{cite journal|last1=Pasmant|first1=E|last2=Sabbagh|first2=A|last3=Spurlock|first3=G|last4=Laurendeau|first4=I|last5=Grillo|first5=E|last6=Hamel|first6=MJ|last7=Martin|first7=L|last8=Barbarot|first8=S|last9=Leheup|first9=B|last10=Rodriguez|first10=D|last11=Lacombe|first11=D|last12=Dollfus|first12=H|last13=Pasquier|first13=L|last14=Isidor|first14=B|last15=Ferkal|first15=S|last16=Soulier|first16=J|last17=Sanson|first17=M|last18=Dieux-Coeslier|first18=A|last19=Bièche|first19=I|last20=Parfait|first20=B|last21=Vidaud|first21=M|last22=Wolkenstein|first22=P|last23=Upadhyaya|first23=M|last24=Vidaud|first24=D|last25=members of the NF France|first25=Network|title=NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.|journal=Human Mutation|date=June 2010|volume=31|issue=6|pages=E1506-18|pmid=20513137|doi=10.1002/humu.21271|s2cid=24525378|url=https://hal.archives-ouvertes.fr/hal-00552390/document|doi-access=free}}</ref>
* [[न्यूरोफाइब्रोमैटोसिस प्रकार II|न्यूरोफाइब्रोमैटोसिस टाइप]]<ref>{{cite journal|last1=Rouleau|first1=GA|last2=Merel|first2=P|last3=Lutchman|first3=M|last4=Sanson|first4=M|last5=Zucman|first5=J|last6=Marineau|first6=C|last7=Hoang-Xuan|first7=K|last8=Demczuk|first8=S|last9=Desmaze|first9=C|last10=Plougastel|first10=B|title=Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.|journal=Nature|date=10 June 1993|volume=363|issue=6429|pages=515–21|doi=10.1038/363515a0|pmid=8379998|bibcode=1993Natur.363..515R|s2cid=24532924}}</ref><ref>{{cite journal|last1=Beck|first1=Megan|last2=Peterson|first2=Jess F.|last3=McConnell|first3=Juliann|last4=McGuire|first4=Marianne|last5=Asato|first5=Miya|last6=Losee|first6=Joseph E.|last7=Surti|first7=Urvashi|last8=Madan-Khetarpal|first8=Suneeta|last9=Rajkovic|first9=Aleksandar|last10=Yatsenko|first10=Svetlana A.|title=Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the gene|journal=American Journal of Medical Genetics Part A|date=May 2015|volume=167|issue=5|pages=1047–1053|doi=10.1002/ajmg.a.36839|url=https://escholarship.org/uc/item/0vx445vv#page-1|pmid=25810350|s2cid=205319722}}</ref>
*[[विलियम्स सिंड्रोम]]<ref>{{cite journal|last1=Tassabehji|first1=M|last2=Metcalfe|first2=K|last3=Karmiloff-Smith|first3=A|last4=Carette|first4=MJ|last5=Grant|first5=J|last6=Dennis|first6=N|last7=Reardon|first7=W|last8=Splitt|first8=M|last9=Read|first9=AP|last10=Donnai|first10=D|title=Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.|journal=American Journal of Human Genetics|date=January 1999|volume=64|issue=1|pages=118–25|doi=10.1086/302214|pmid=9915950|pmc=1377709}}</ref>
*[[विलियम्स सिंड्रोम]]<ref>{{cite journal|last1=Tassabehji|first1=M|last2=Metcalfe|first2=K|last3=Karmiloff-Smith|first3=A|last4=Carette|first4=MJ|last5=Grant|first5=J|last6=Dennis|first6=N|last7=Reardon|first7=W|last8=Splitt|first8=M|last9=Read|first9=AP|last10=Donnai|first10=D|title=Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.|journal=American Journal of Human Genetics|date=January 1999|volume=64|issue=1|pages=118–25|doi=10.1086/302214|pmid=9915950|pmc=1377709}}</ref>
* मिलर-डाइकर सिंड्रोम<ref>{{cite journal|last1=Huang|first1=HC|last2=Bautista|first2=SL|last3=Chen|first3=BS|last4=Chang|first4=KP|last5=Chen|first5=YJ|last6=Wuu|first6=SW|title=Miller-Dieker syndrome with microdeletion of chromosome 17p13.3: report of one case.|journal=Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui|date=1996|volume=38|issue=6|pages=472–6|pmid=9473821}}</ref>
* मिलर-डाइकर सिंड्रोम<ref>{{cite journal|last1=Huang|first1=HC|last2=Bautista|first2=SL|last3=Chen|first3=BS|last4=Chang|first4=KP|last5=Chen|first5=YJ|last6=Wuu|first6=SW|title=Miller-Dieker syndrome with microdeletion of chromosome 17p13.3: report of one case.|journal=Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui|date=1996|volume=38|issue=6|pages=472–6|pmid=9473821}}</ref>
* स्मिथ-मैगेनिस का योगदान<ref>{{cite journal|last1=Bi|first1=W|last2=Yan|first2=J|last3=Stankiewicz|first3=P|last4=Park|first4=SS|last5=Walz|first5=K|last6=Boerkoel|first6=CF|last7=Potocki|first7=L|last8=Shaffer|first8=LG|last9=Devriendt|first9=K|last10=Nowaczyk|first10=MJ|last11=Inoue|first11=K|last12=Lupski|first12=JR|title=Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.|journal=Genome Research|date=May 2002|volume=12|issue=5|pages=713–28|doi=10.1101/gr.73702|pmid=11997338|pmc=186594}}</ref>
* स्मिथ-मैगेनिस सिंड्रोम<ref>{{cite journal|last1=Bi|first1=W|last2=Yan|first2=J|last3=Stankiewicz|first3=P|last4=Park|first4=SS|last5=Walz|first5=K|last6=Boerkoel|first6=CF|last7=Potocki|first7=L|last8=Shaffer|first8=LG|last9=Devriendt|first9=K|last10=Nowaczyk|first10=MJ|last11=Inoue|first11=K|last12=Lupski|first12=JR|title=Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.|journal=Genome Research|date=May 2002|volume=12|issue=5|pages=713–28|doi=10.1101/gr.73702|pmid=11997338|pmc=186594}}</ref>
* रुबिनस्टीन-तैयबी सिंड्रोम<ref>{{cite journal|last1=Wójcik|first1=C|last2=Volz|first2=K|last3=Ranola|first3=M|last4=Kitch|first4=K|last5=Karim|first5=T|last6=O'Neil|first6=J|last7=Smith|first7=J|last8=Torres-Martinez|first8=W|title=Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?|journal=American Journal of Medical Genetics Part A|date=February 2010|volume=152A|issue=2|pages=479–83|pmid=20101707|doi=10.1002/ajmg.a.33303|s2cid=205312346}}</ref>
* रुबिनस्टीन-तैयबी सिंड्रोम<ref>{{cite journal|last1=Wójcik|first1=C|last2=Volz|first2=K|last3=Ranola|first3=M|last4=Kitch|first4=K|last5=Karim|first5=T|last6=O'Neil|first6=J|last7=Smith|first7=J|last8=Torres-Martinez|first8=W|title=Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?|journal=American Journal of Medical Genetics Part A|date=February 2010|volume=152A|issue=2|pages=479–83|pmid=20101707|doi=10.1002/ajmg.a.33303|s2cid=205312346}}</ref>
* वुल्फ-हिर्शोर्न सिंड्रोम<ref>{{cite journal|last1=Rauch|first1=A|last2=Schellmoser|first2=S|last3=Kraus|first3=C|last4=Dörr|first4=HG|last5=Trautmann|first5=U|last6=Altherr|first6=MR|last7=Pfeiffer|first7=RA|last8=Reis|first8=A|title=वुल्फ-हिर्शहॉर्न सिंड्रोम महत्वपूर्ण क्षेत्र के भीतर पहला ज्ञात माइक्रोडिलीशन जीनोटाइप-फेनोटाइप सहसंबंध को परिष्कृत करता है।|journal=American Journal of Medical Genetics|date=1 April 2001|volume=99|issue=4|pages=338–42|pmid=11252005|doi=10.1002/ajmg.1203}}</ref>
* वुल्फ-हिर्शोर्न सिंड्रोम<ref>{{cite journal|last1=Rauch|first1=A|last2=Schellmoser|first2=S|last3=Kraus|first3=C|last4=Dörr|first4=HG|last5=Trautmann|first5=U|last6=Altherr|first6=MR|last7=Pfeiffer|first7=RA|last8=Reis|first8=A|title=वुल्फ-हिर्शहॉर्न सिंड्रोम महत्वपूर्ण क्षेत्र के भीतर पहला ज्ञात माइक्रोडिलीशन जीनोटाइप-फेनोटाइप सहसंबंध को परिष्कृत करता है।|journal=American Journal of Medical Genetics|date=1 April 2001|volume=99|issue=4|pages=338–42|pmid=11252005|doi=10.1002/ajmg.1203}}</ref>




==संदर्भ==
==संदर्भ                                                                                                   ==
{{reflist}}
{{reflist}}


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[[Category: Machine Translated Page]]
[[Category: Machine Translated Page]]
[[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.
  4. ↑ 4.0 4.1 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.
  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.
  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.
  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.
  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.
  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.
  13. ↑ Rauch, A; Schellmoser, S; Kraus, C; Dörr, HG; Trautmann, U; Altherr, MR; Pfeiffer, RA; Reis, A (1 April 2001). "वुल्फ-हिर्शहॉर्न सिंड्रोम महत्वपूर्ण क्षेत्र के भीतर पहला ज्ञात माइक्रोडिलीशन जीनोटाइप-फेनोटाइप सहसंबंध को परिष्कृत करता है।". American Journal of Medical Genetics. 99 (4): 338–42. doi:10.1002/ajmg.1203. PMID 11252005.


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