نتایج جستجو برای: internal tandem duplication

تعداد نتایج: 302669  

Journal: :Blood 2011
Shabnam Kharazi Adam J Mead Anna Mansour Anne Hultquist Charlotta Böiers Sidinh Luc Natalija Buza-Vidas Zhi Ma Helen Ferry Debbie Atkinson Kristian Reckzeh Kristina Masson Jörg Cammenga Lars Rönnstrand Fumio Arai Toshio Suda Claus Nerlov Ewa Sitnicka Sten Eirik W Jacobsen

Acquisition of homozygous activating growth factor receptor mutations might accelerate cancer progression through a simple gene-dosage effect. Internal tandem duplications (ITDs) of FLT3 occur in approximately 25% cases of acute myeloid leukemia and induce ligand-independent constitutive signaling. Homozygous FLT3-ITDs confer an adverse prognosis and are frequently detected at relapse. Using a ...

Journal: :Journal of medical genetics 1998
D de Silva D Massie J Drummond D Couzin J C Dean

The clinical features and cytogenetic results of an 18 year old mentally handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX,dup(1)(q12q22)/46,XX) are reported. The case is compared with the three previously described cases and possible mechanisms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome ...

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