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http://scihub22266oqcxt.onion/ 8213833/?report=reader!1682298!8213833     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 1993 ; 53 (5): 1074-8 Nephropedia Template TP {{tp|p=8213833|t=1993. Normal phenotype with paternal uniparental isodisomy for chromosome 21 |pdf=|usr=}}{{8213833}} gab.com Text Normal phenotype with paternal uniparental isodisomy for chromosome 21 JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=8213833 #FOAvip Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In order to investigate whether UPD for chromosome 21 is associated with abnormal phenotypes, we analyzed DNA polymorphisms in DNA from a family with de novo Robertsonian translocation t(21q;21q). The proband was a healthy male with 45 dup(21q) who was ascertained through his trisomy 21 offspring. No phenotypic abnormalities were noted in the physical exam, and his past medical history was unremarkable. We obtained genotypes for the proband and his parents' leukocyte DNAs from 17 highly informative short sequence repeat polymorphisms that map in the pericentromeric region and along the entire length of 21q. The order of the markers has been previously determined through the linkage and physical maps of this chromosome. For the nine informative markers there was no maternal allele contribution to the genotype of the proband; in addition, there was always reduction to homozygosity of a paternal allele. These data indicated that there was paternal uniparental isodisomy for chromosome 21 (pUPiD21). We conclude that pUPiD21 is not associated with abnormal phenotypes and that there are probably no imprinted genes on chromosome 21. Twit Text FOAVip Normal phenotype with paternal uniparental isodisomy for chromosome 21 ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=8213833 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=8213833 #FOAvip English Wikipedia <ref>{{Cite pmid|8213833}}</ref> Normal phenotype with paternal uniparental isodisomy for chromosome 21 #MMPMID8213833 Blouin JL; Avramopoulos D; Pangalos C; Antonarakis SE Am J Hum Genet 1993[Nov]; 53 (5): 1074-8 PMID8213833show ga Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In order to investigate whether UPD for chromosome 21 is associated with abnormal phenotypes, we analyzed DNA polymorphisms in DNA from a family with de novo Robertsonian translocation t(21q;21q). The proband was a healthy male with 45 dup(21q) who was ascertained through his trisomy 21 offspring. No phenotypic abnormalities were noted in the physical exam, and his past medical history was unremarkable. We obtained genotypes for the proband and his parents' leukocyte DNAs from 17 highly informative short sequence repeat polymorphisms that map in the pericentromeric region and along the entire length of 21q. The order of the markers has been previously determined through the linkage and physical maps of this chromosome. For the nine informative markers there was no maternal allele contribution to the genotype of the proband; in addition, there was always reduction to homozygosity of a paternal allele. These data indicated that there was paternal uniparental isodisomy for chromosome 21 (pUPiD21). We conclude that pUPiD21 is not associated with abnormal phenotypes and that there are probably no imprinted genes on chromosome 21. |*Chromosome Aberrations[MESH] |*Chromosomes, Human, Pair 21[MESH] |Adult[MESH] |Genotype[MESH] |Humans[MESH] |Karyotyping[MESH] |Male[MESH] |Phenotype[MESH] |Polymorphism, Genetic[MESH]Normal phenotype with paternal uniparental isodisomy for chromosome 21(epmc).pdf DeepDyve Pubget Overpricing