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  • phenotypes
  • Our findings demonstrate that patients with tetrasomy and pentasomy of chromosome 15q11q13 share similar spectrum of phenotypes reported in other high copy number 15q11q13 patients in the West, and positive correlation between 15q11q13 copy number and degree of severity of clinical phenotypes. (pubmedcentralcanada.ca)
  • Philadelphia
  • BCR is well known because it becomes pasted onto Chromosome 9 in the classic leukemia mutation, the Philadelphia Chromosome . (genomeyear.net)
  • ) However, the presence of the Philadelphia (Ph) chromosome is not sufficiently specific to diagnose CML, since it is also found in acute lymphoblastic leukemia (aka ALL, 25-30% of adult cases and 2-10% of pediatric cases) and occasionally in acute myelogenous leukemia (AML) as well as mixed-phenotype acute leukemia (MPAL). (wikipedia.org)
  • human
  • In a massive study, we combined all information in public and private databases, including data generated by Celera Genomics, as well 15 years of our data and analyses to generate what we believe is the most comprehensive description of any human chromosome. (innovations-report.com)
  • In yesterday's Sciencexpress, researchers described the most complete annotation of human chromosome 7 to date. (schizophreniaforum.org)
  • region
  • In reference to this physical map covering 1p36 region, we assessed the breakpoints in three of in vitro established cell lines and two of in vivo cell lines maintained in SCID mice. (nii.ac.jp)
  • The breakpoint of HMS, an in vivo cell line maintained in SCID mice, was mapped between markers SHGC-110595 and D1S1615 spanning about 260-kb long within the 1p36 region. (nii.ac.jp)
  • repeat
  • Azzalin CM, Reichenbach P, Khoriauli L, Giulotto E, Lingner J (2007) Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends. (springer.com)