• Acrocentric cryptic translocation associated with nondisjunction of chromosome 21. (cs-tl.de)
  • Translocation of the nucleolus organizer region to the human X chromosome. (cs-tl.de)
  • A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation. (cs-tl.de)
  • Using a fluorescence microscope and computer software, the differentially coloured fluorescent signals are then compared along the length of each chromosome for identification of chromosomal differences between the two sources. (wikipedia.org)
  • This is because balanced chromosomal abnormalities such as reciprocal translocations, inversions or ring chromosomes do not affect copy number, which is what is detected by CGH technologies. (wikipedia.org)
  • The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)
  • A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)
  • An interstitial nucleolus organizer region in the long arm of human chromosome 7: cytogenetic characterization and familial segregation. (cs-tl.de)
  • An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (lookformedical.com)
  • A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities. (cs-tl.de)
  • Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: a new variant without phenotypic effect. (cs-tl.de)
  • CGH does, however, allow for the exploration of all 46 human chromosomes in single test and the discovery of deletions and duplications, even on the microscopic scale which may lead to the identification of candidate genes to be further explored by other cytological techniques. (wikipedia.org)
  • The authors painted a series of individual human chromosomes from a DNA library with two different fluorophores in different proportions to test the technique, and also applied CGH to genomic DNA from patients affected with either Downs syndrome or T-cell prolymphocytic leukemia as well as cells of a renal papillary carcinoma cell line. (wikipedia.org)
  • Clinical significance of the satellited short arm of human chromosome 17 (17ps +) : a rare heteromorphism? (cs-tl.de)
  • In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)