The chromosomal defect in the Philadelphia chromosome is a reciprocal translocation, in which parts of two chromosomes, 9 and 22, swap places.The result is that a fusion gene is created by juxtaposing the ABL1 gene on chromosome 9 (region q34) to a part of the BCR (breakpoint cluster region) gene on chromosome 22 (region q11). This is a reciprocal translocation, creating an …

An abnormal number of chromosomes is called aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.). Aneuploidy can be full, involving a whole chromosome missing or added, or partial, where only part of a chromosome is missing or added.

Dans sa définition commune le chromosome est constitué d'une (ou plusieurs) molécule d'ADN, d'histones et de protéines non-histones, en ne tenant pas compte de son degré de condensation. Dans sa définition la plus scientifiquement rigoureuse, un chromosome correspond à une structure totalement condensée de chromatine.Dans cette définition, le chromosome est …