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10.2147/TACG.S82105 http://scihub22266oqcxt.onion/10.2147/TACG.S82105 C4445702!4445702!26056486     free     free     free       Appl+Clin+Genet 2015 ; 8 (ä): 123-32 Nephropedia Template TP {{tp|p=26056486|t=2015. 22q11 deletion syndrome: current perspective |pdf=|usr=}}{{26056486}} gab.com Text 22q11 deletion syndrome: current perspective JO: Appl Clin Genet http://www.kidney.de/pget.php?&tw=1&pmid=26056486 #FOAvip Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is associated with a wide variety of phenotypes. The term 22q11DS is an umbrella term that is used to encompass all 22q11.2 deletion-associated phenotypes. The haploinsufficiency of genes located at 22q11.2 affects the early morphogenesis of the pharyngeal arches, heart, skeleton, and brain. TBX1 is the most important gene for 22q11DS. This syndrome can ultimately affect many organs or systems; therefore, it has a very wide phenotypic spectrum. An increasing amount of information is available related to the pathogenesis, clinical phenotypes, and management of this syndrome in recent years. This review summarizes the current clinical and genetic status related to 22q11DS. Twit Text FOAVip 22q11 deletion syndrome: current perspective ????Appl Clin Genet http://www.kidney.de/pget.php?&tw=1&pmid=26056486 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26056486 #FOAvip English Wikipedia <ref>{{Cite pmid|26056486}}</ref> 22q11 deletion syndrome: current perspective #MMPMID26056486 Hac?hamdio?lu B; Hac?hamdio?lu D; Delil K Appl Clin Genet 2015[]; 8 (ä): 123-32 PMID26056486show ga Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is associated with a wide variety of phenotypes. The term 22q11DS is an umbrella term that is used to encompass all 22q11.2 deletion-associated phenotypes. The haploinsufficiency of genes located at 22q11.2 affects the early morphogenesis of the pharyngeal arches, heart, skeleton, and brain. TBX1 is the most important gene for 22q11DS. This syndrome can ultimately affect many organs or systems; therefore, it has a very wide phenotypic spectrum. An increasing amount of information is available related to the pathogenesis, clinical phenotypes, and management of this syndrome in recent years. This review summarizes the current clinical and genetic status related to 22q11DS. ä22q11 deletion syndrome: current perspective (epmc).pdf DeepDyve Pubget Overpricing