نتایج جستجو برای: genetic translocation
تعداد نتایج: 654361 فیلتر نتایج به سال:
the short arm of rye 1r chromosome (1rs) carries genes for resistance to diseases and pests. the presence of the 1rs arm also enhance adaptation, stress tolerance and yield potential of bread wheat. in the present study 17 bread wheat cultivars were screened to identify 1bl.1rs translocation (t1bl.1rs) by isoelectric focusing, c-banding and fluorescence in situ hybridization (fish) methods. iso...
Abstract Background Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance a healthy live birth. However, limited knowledge known on data of PGT-SR when both parents have translocation. Here, we first time present rare instance non-consanguineous couple which carried an independe...
Diamondback terrapins (Malaclemys terrapin) were a popular food item in early twentieth century America, and were consumed in soup with sherry. Intense market demand for terrapin meat resulted in population declines, notably along the Atlantic seaboard. Efforts to supply terrapins to markets resulted in translocation events, as individuals were moved about to stock terrapin farms. However, in 1...
background: acute myeloid leukemia (aml) with translocation (3,3) is a form of aml that may present de novo or may arise from a previous myelodysplastic syndrome. it is often associated with normal or elevated peripheral blood platelet count and increased bone marrow megakaryocytes with associated multi lineage dysplasia. a subset of patients present with hepatosplenomegaly while a few cases ha...
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Corpus callosum abnormalities are common brain malformations with a wide clinical spectrum ranging from severe intellectual disability to normal cognitive function. The etiology is expected to be genetic in as much as 30-50% of the cases, but the underlying geneti...
Upon illumination, visual arrestin translocates from photoreceptor cell bodies to rhodopsin and membrane-rich photosensory compartments, vertebrate outer segments or invertebrate rhabdomeres, where it quenches activated rhodopsin. Both the mechanism and function of arrestin translocation are unresolved and controversial. In dark-adapted photoreceptors of the fruitfly Drosophila, confocal immuno...
Background: Mosaicism of a normal cell population and an unbalanced autosomal chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor part of soma, the phenotype is expected to be normal. Case Report: We report a 29-year-old woman who had balance chromosomal translocation of 46,XX,t(5;21) with a 2-year-old affected girl, characterized by mental retardation, dys...
Preimplantation genetic diagnosis (PGD) is widely applied in reciprocal translocation carriers to increase the chance for a successful live birth. However, reciprocal translocation carrier embryos were seldom discriminated from the normal ones mainly due to the technique restriction. Here we established a clinical applicable approach to identify precise breakpoint of reciprocal translocation an...
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