نتایج جستجو برای: interchromosomal effect
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this case report presents a coincidence of trisomy 18 and balanced robertsonian translocation (13;14). aneuploidy was suspected based on anomalies detected in ultrasound scan and confirmed with karyotype. in a 31 years-old healthy woman with a history of one miscarriage, second trimester ultrasound scan reported iugr (<3rd percentile) with normal amniotic fluid, bilateral choroid plexus cysts, ...
Ectopic recombination between interspersed repeat sequences generates chromosomal rearrangements that have a major impact on genome structure. A survey of ectopic recombination in the region flanking the white locus of Drosophila melanogaster identified 25 transposon-mediated rearrangements from four parallel experiments. Eighteen of the 25 were generated from females carrying X chromosomes het...
Haploid Saccharomyces can change mating type through HO-endonuclease cleavage of an expressor locus, MAT, followed by gene conversion using one of two repository loci, HML or HMR, as donor. The mating type of a cell dictates which repository locus is used as donor, with a cells using HML and alpha cells using HMR. This preference is established in part by RE, a locus on the left arm of chromoso...
B ECAUSE triploid females form large numbers of chromosomally unbalanced eggs it is possible to recover complementary types of unbalanced sperm. This technique revealed the occurrence of autosomal nondisjunction in males (STERN 1934; PONTECORVO 1940) and was also used by MULLER and PONTECORVO ( 1940) and PONTECORVO (1943) to recover sperm where radiation induced chromosome breaks caused one or ...
Four unrelated families with the same unbalanced translocation der(4)t(4;11)(p16.2;p15.4) were analyzed. Both of the breakpoint regions in 4p16.2 and 11p15.4 were narrowed to large ∼359-kb and ∼215-kb low-copy repeat (LCR) clusters, respectively, by aCGH and SNP array analyses. DNA sequencing enabled mapping the breakpoints of one translocation to 24 bp within interchromosomal paralogous LCRs o...
A family is described in which the proband has a rearranged X chromosome involving monosomy Xp and trisomy Xq, while the mother has a paracentric inversion of chromosome 7. It is suggested that the phenomenon of interchromosomal effect may link these observations. A brief review of the published and computer catalogued data on paracentric inversion in man is included.
After mitosis, mammalian chromosomes partially decondense to occupy distinct territories in the cell nucleus. Current models propose that territories are separated by an interchromatin domain, rich in soluble nuclear machinery, where only rare interchromosomal interactions can occur via extended chromatin loops. In contrast, recent evidence for chromatin mobility and high frequency of chromosom...
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