نتایج جستجو برای: 11q23 translocation

تعداد نتایج: 47169  

Journal: :Journal of medical genetics 1996
A J Dawson A J Mears A E Chudley T Bech-Hansen H McDermid

The t(11;22) (q23;q11) translocation is the most frequently identified familial reciprocal translocation in humans. In translocation carriers, 3:1 meiotic segregation with tertiary trisomy can occur resulting in abnormal progeny with the der(22) as the supernumary chromosome. Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We have identified a ...

Journal: :Journal of medical genetics 1997
D Smeets C van Ravenswaaij J de Pater K Gerssen-Schoorl J Van Hemel G Janssen A Smits

Carriers of balanced reciprocal translocations may have a (high) risk for producing liveborn children with an unbalanced karyotype. We report a large family in which a translocation between the long arm of chromosome 11 and the short arm of chromosome 13 is segregating in at least five generations. During the course of our study 15 carriers of the balanced translocation were identified and nine...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2012
Ian G Cowell Zbyslaw Sondka Kayleigh Smith Ka Cheong Lee Catriona M Manville Malgorzata Sidorczuk-Lesthuruge Holly Ashlene Rance Kay Padget Graham Hunter Jackson Noritaka Adachi Caroline A Austin

Topoisomerase poisons such as the epipodophyllotoxin etoposide are widely used effective cytotoxic anticancer agents. However, they are associated with the development of therapy-related acute myeloid leukemias (t-AMLs), which display characteristic balanced chromosome translocations, most often involving the mixed lineage leukemia (MLL) locus at 11q23. MLL translocation breakpoints in t-AMLs c...

2017
Martin Granzow Ute Hegenbart Katrin Hinderhofer Dirk Hose Anja Seckinger Tilmann Bochtler Kari Hemminki Hartmut Goldschmidt Stefan O. Schönland Anna Jauch

Immunoglobulin light chain (AL) amyloidosis is a rare plasma cell dyscrasia characterized by the deposition of abnormal amyloid fibrils in multiple organs, thus impairing their function. In the largest cohort studied up to now of 118 CD138-purified plasma cell samples from previously untreated immunoglobulin light chain amyloidosis patients, we assessed in parallel copy number alterations using...

Journal: :Blood 1997
L H Butler R Slany X Cui M L Cleary D Y Mason

Chromosomal rearrangement of the HRX (MLL, ALL-1, Htrx) gene situated at chromosome band 11q23 is one of the most frequent genetic changes in infant leukemias of myeloid and lymphoid lineage and in treatment-induced secondary leukemias. The HRX gene codes for a predicted 431-kD protein that shows significant homology to the Drosophila trithorax protein, an Hox epigenetic regulator. Typically, t...

Journal: :Blood 1998
M Chesi E Nardini R S Lim K D Smith W M Kuehl P L Bergsagel

Previously we reported that a karyotypically silent t(4;14)(p16. 3;q32.3) translocation is present in about 25% of multiple myeloma (MM) tumors, and causes overexpression of FGFR3, which is 50 to 100 kb telomeric to the 4p16 breakpoints. Frequent FGFR3 kinase activating mutations in MM with t(4;14) translocations substantiate an oncogenic role for FGFR3. We now report that the 4p16 breakpoints ...

Journal: :Haematologica 2000
Y Zhu O Monni K Franssila E Elonen J Vilpo H Joensuu S Knuutila

BACKGROUND AND OBJECTIVES Chromosome band 11q23 is frequently deleted in various types of neoplasm. The region represented by yeast artificial chromosome (YAC) clone 755b11 at 11q23 has been shown to be the minimal common region of deletion in mantle cell lymphoma (MCL) and B-cell chronic lymphocytic leukemia (B-CLL). The aim of the study was to determine the frequencies of 11q23 deletion in di...

Journal: :British journal of haematology 2005
J Palle B M Frost E Forestier G Gustafsson P Nygren M Hellebostad O G Jonsson J Kanerva K Schmiegelow R Larsson G Lönnerholm

Rearrangements in the 11q23 region, the site of the mixed lineage leukaemia (MLL) gene, are found in both childhood acute myeloid (AML) and lymphoblastic (ALL) leukaemia. We studied the in vitro drug resistance by the fluorometric microculture cytotoxicity assay (FMCA) in 132 children with AML and 178 children with ALL (aged 0-17 years). In AML, children with t(9;11) (n = 10) were significantly...

Journal: :Cancer research 1994
M A Caligiuri S A Schichman M P Strout K Mrózek M R Baer S R Frankel M Barcos G P Herzig C M Croce C D Bloomfield

Translocations which involve chromosome band 11q23 are frequently found in infants and adults with acute myeloid leukemia (AML) or acute lymphoblastic leukemia. We previously cloned a gene called ALL-1 which spans the 11q23 breakpoint and is rearranged in most cases of leukemia with 11q23 abnormalities. In the present report, we have investigated the occurrence of ALL-1 rearrangement in cases o...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید