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http://scihub22266oqcxt.onion/ 8352277/?report=reader!1682421!8352277     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=8352277&cmd=llinks): Failed to open stream: HTTP request failed! 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Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms |pdf=|usr=}}{{8352277}} gab.com Text Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=8352277 #FOAvip Given the availability of DNA from both parents, unusual segregation of hypervariable DNA polymorphisms (HVPs) in the offspring may be attributable to deletion, unbalanced chromosomal translocation, or uniparental disomy. The telomeric regions of chromosomes are rich in both genes and hypervariable minisatellite sequences and may also be particularly prone to cryptic breakage events. Here I describe and analyze a general approach to the detection of subtelomeric abnormalities and uniparental disomy in patients with unexplained mental retardation. With 29 available polymorphic systems, approximately 50%-70% of these abnormalities could currently be detected. Development of subtelomeric HVPs physically localized with respect to their telomeres should provide a valuable resource in routine diagnostics. Twit Text FOAVip Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=8352277 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=8352277 #FOAvip English Wikipedia <ref>{{Cite pmid|8352277}}</ref> Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms #MMPMID8352277 Wilkie AO Am J Hum Genet 1993[Sep]; 53 (3): 688-701 PMID8352277show ga Given the availability of DNA from both parents, unusual segregation of hypervariable DNA polymorphisms (HVPs) in the offspring may be attributable to deletion, unbalanced chromosomal translocation, or uniparental disomy. The telomeric regions of chromosomes are rich in both genes and hypervariable minisatellite sequences and may also be particularly prone to cryptic breakage events. Here I describe and analyze a general approach to the detection of subtelomeric abnormalities and uniparental disomy in patients with unexplained mental retardation. With 29 available polymorphic systems, approximately 50%-70% of these abnormalities could currently be detected. Development of subtelomeric HVPs physically localized with respect to their telomeres should provide a valuable resource in routine diagnostics. |*Chromosome Aberrations/*genetics[MESH] |*Chromosome Disorders[MESH] |*Models, Genetic[MESH] |*Polymorphism, Genetic[MESH] |*Telomere[MESH] |Chromosome Deletion[MESH] |DNA, Satellite/analysis[MESH] |Genetic Variation[MESH] |Humans[MESH] |Intellectual Disability/*genetics[MESH] |Monosomy[MESH] |Recombination, Genetic[MESH]Detection of cryptic chromosomal abnormalities in unexplained mental r(epmc).pdf DeepDyve Pubget Overpricing