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http://scihub22266oqcxt.onion/ 8900241/?report=reader!1914849!8900241     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 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 1996 ; 59 (5): 1114-8 Nephropedia Template TP {{tp|p=8900241|t=1996. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q) |pdf=|usr=}}{{8900241}} gab.com Text Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q) JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=8900241 #FOAvip A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromosome 2. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted genes with major effect map to chromosome 2. Twit Text FOAVip Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q) ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=8900241 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=8900241 #FOAvip English Wikipedia <ref>{{Cite pmid|8900241}}</ref> Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q) #MMPMID8900241 Bernasconi F; Karaguzel A; Celep F; Keser I; Luleci G; Dutly F; Schinzel AA Am J Hum Genet 1996[Nov]; 59 (5): 1114-8 PMID8900241show ga A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromosome 2. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted genes with major effect map to chromosome 2. |*Chromosomes, Human, Pair 2[MESH] |*Isochromosomes[MESH] |Abortion, Spontaneous/*genetics[MESH] |Adult[MESH] |Female[MESH] |Genomic Imprinting[MESH] |Humans[MESH] |Karyotyping[MESH] |Mothers[MESH] |Phenotype[MESH]Normal phenotype with maternal isodisomy in a female with two isochrom(epmc).pdf DeepDyve Pubget Overpricing