نتایج جستجو برای: balanced chromosomal rearrangement

تعداد نتایج: 116705  

Journal: :Human reproduction 2005
T Anahory S Hamamah B Andréo B Hédon M Claustres P Sarda F Pellestor

BACKGROUND The t(13;22) Robertsonian translocation constitutes a rare form of rearrangement between acrocentric human chromosomes. Most of the meiotic segregation studies of human Robertsonian translocations have been performed on common t(13;14) and t(14;21) translocations. Analysis of the chromosomal constitution in sperm of Robertsonian translocation carriers is of great interest for assessi...

Journal: :Journal of bacteriology 1996
T Sato K Harada Y Kobayashi

The spoIVCA gene of Bacillus subtilis encodes a site-specific recombinase, which excises a 48-kb skin element from the chromosomal DNA by DNA rearrangement and creates a new composite gene, sigK, on the chromosome. From spoIVCA mutants, we have isolated Spo+ revertants which have no skin element but have an intact sigK gene. This result suggests that the DNA rearrangement can occur in the absen...

2006
Andrew P. Feinberg Donald S. Coffey

DNA rearrangement rather than point mutation is an emerg ing hypothesis for human carcinogenesis. Although there is no direct evidence for this hypothesis, indirect evidence is pro vided by cancer cytogenetics and genetics. It has been sug gested that patients with Bloom's syndrome, a disorder of spontaneous chromosomal rearrangement, develop the com mon fatal internal cancers and thus that gen...

Journal: :Cancer research 1982
A P Feinberg D S Coffey

DNA rearrangement rather than point mutation is an emerging hypothesis for human carcinogenesis. Although there is no direct evidence for this hypothesis, indirect evidence is provided by cancer cytogenetics and genetics. It has been suggested that patients with Bloom's syndrome, a disorder of spontaneous chromosomal rearrangement, develop the common fatal internal cancers and thus that genetic...

Journal: :Journal of medical genetics 2005
S M Gribble E Prigmore D C Burford K M Porter Bee Ling Ng E J Douglas H Fiegler P Carr D Kalaitzopoulos S Clegg R Sandstrom I K Temple S A Youings N S Thomas N R Dennis P A Jacobs J A Crolla N P Carter

OBJECTIVE To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome rearrangements, map the translocation breakpoints, and report detectable genomic imbalances. METHODS DNA microarrays were used with a resolution of 1 Mb for the detailed genome-wide analysis of the pa...

Journal: :Journal of Hematopathology 2021

Myeloid/lymphoid neoplasms with FGFR1 rearrangement (MLN-FGFR1) comprise a heterogeneous group of that can present as myeloproliferative neoplasm, myelodysplastic/myeloproliferative acute myeloid leukemia, T or B lymphoblastic leukemia/lymphoma, mixed phenotype leukemia. The overall outcome these is poor, and patients often show cytogenetic evolution gain additional chromosomal abnormalities le...

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