نتایج جستجو برای: chromosomal translocation
تعداد نتایج: 87647 فیلتر نتایج به سال:
Investigations of apparently balanced chromosomal rearrangements in patients with abnormal phenotype by molecular cytogenetics tools, especially by array CGH, revealed a proportion of unsuspected imbalances. It was estimated recently that 40% of apparently balanced de novo translocations with abnormal phenotype were associated with cryptic deletion. We explored 47 unrelated mental retardation p...
Objective: The aim of this study was to compare the frequency of chromosomal translocations in postnatal and prenatal cases in a single laboratory in China, and to investigate the rates and indications of chromosomal translocations in postnatal diagnosis and prenatal diagnosis. Study design: 17,991 postnatal cases with reproductive failure or congenital anomalies and 4198 prenatal cases with in...
BACKGROUND Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities. CASE REPORT We report a man with balanced chromosomal translocations located at 6p22, and 7q22. His wife has a history of four spontaneous abortions. CONCLUSION Couples with a history...
change become increasingly apparent, more managers are likely to seek guidance from scientists as to when assisted colonization might be an appropriate tool to use. Humans have historicallymoved organisms for a variety of purposes, and at least two species have already beenmoved under the aegis of assisted colonization [7,8]. Thus, we believe that an attempt to prohibit intentional translocatio...
Rewilding--the proposed restoration of ecosystems through the (re-)introduction of species--is seen by many as a way to stem the loss of biodiversity and the functions and services that biodiversity provides to humanity. In addition, rewilding might lead to increased public engagement and enthusiasm for biodiversity. But what exactly is rewilding, and is it based on sound ecological understandi...
The motions of large systems such as the ribosome are not fully accessible with conventional molecular simulations. A coarse-grained, less-than-atomic-detail model such as the anisotropic network model (ANM) is a convenient informative tool to study the cooperative motions of the ribosome. The motions of the small 30S subunit, the larger 50S subunit, and the entire 70S assembly of the two subun...
Aberrant fusions between heterologous chromosomes are among the most prevalent cytogenetic abnormalities found in cancer cells. Oncogenic chromosomal translocations provide cells with a proliferative or survival advantage. They may either initiate transformation or be acquired secondarily as a result of genomic instability. Here, we highlight recent advances toward understanding the origin of c...
Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterised by the presence of the Philadelphia (Ph) chromosome which is due to the reciprocal translocation, t(9;22)(q34;q11.2). The translocation results in the BCR-ABL1 fusion gene, encoding a constitutively active tyrosine kinase protein which causes the genesis of CML. About 5-10% of newly diagnosed Ph-positive CML patients ...
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