Comparative genomic hybridization of a 38 year old human male with treatment related erythroleukaemia (AML-M6) and an abnormal karyotpe
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ABSTRACT: Array CGH to detect somatic genomic copy number variation in a 38 year old male with treatment related erythroleukaemia (AML-M6)and an abnormal karyotpe
Project description:The aim of the study was to identify molecular mechanisms involved in high risk diffuse large B-cell lymphomas (diffuse large B-cell lymphomas). <br>51 prospectively collected tumor samples from the patients treated in the Nordic phase II study with dose-dense chemoimmunotherapy followed by systemic CNS prophylaxis were analyzed by high resolution array comparative genomic hybridization (aCGH). <br>The aCGH data were combined with the transcriptomics information from the exon array and the data associated with survival.
Project description:Case report of a child with Haemophilia B (factor IX deficiency), partial hypopituitarism, subtle dysmorphism and mild developmental delay, where a 2.31Mb de novo deletion of Xq27.1-q27.2 was identified on array CGH investigations (using a sample from a healthy, annoymous donor as control). This contiguous deletion includes the genes F9 and SOX3 and therefore provides a cause for this patient's abnormal phenotype.
Project description:Genomic comparison hybridization have been made between patients suffering of Verloes David Mesomelic Synostosis and 2 healthy references.
Project description:Somatic genetic copy number analysis of bone marrow from a male patient with refractory cytopenia with multilineage dysplasia and ringed sideroblasts and an abnormal karyotype, 45,XY,der(5)t(5;14)(q14;?q24),dic(17;20)(p13;q12),dic(17;20)(p11.2;q12),-18,+22[6]/45,XY,der(5)t(5;14)(q14;?q24),dic(17;20)(20pter->20p11.2::17p1?1.2->17p1?3::20q12->20q10::20q10->20q12::17p11.2->17qter),dic(17;20)(p11.2;q11.2),-18,+22[cp2]/46,XY,der(5)t(5;14)(q14;?q24),der(17)(20pter->20p13::20q11.2->20q11.2::17p13->17qter),der(17)(20pter->20p11.2::20q11.2->20q11.2::17p13->17qter),-18, 20,+22,+r[9] (Case 6, MacKinnon et al 2007, Genes Chr Cancer 46:27-36)