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An isochromosome is an unbalanced structural abnormality in which the arms of the chromosome are mirror images of each other. [1] The chromosome consists of two copies of either the long (q) arm or the short (p) arm because isochromosome formation is equivalent to a simultaneous duplication and deletion of genetic material .
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[1] [2] Three chromosomal abnormalities with ISCN nomenclature, with increasing complexity: (A) A tumour karyotype in a male with loss of the Y chromosome, (B) Prader–Willi Syndrome i.e. deletion in the 15q11-q12 region and (C) an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities. [3]
Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. People normally have two copies of this chromosome. Chromosome 3 spans more than 198 million base pairs (the building material of DNA ) and represents about 6.5 percent of the total DNA in cells .
[1] [2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. [3]
Tetrasomy 18p is caused by the presence of an additional isochromosome composed of two copies of the p arm of chromosome 18. [4] This extra chromosome is classified as a small supernumerary marker chromosome that forms de novo in a parent's egg or sperm or, in rare cases, is directly inherited from a parent carrier of the intact small ...
[1] [2] [3] The DNA fragments extracted by the gradient centrifugation were later termed "isochores", [4] which was subsequently defined as "very long (much greater than 200 KB) DNA segments" that "are fairly homogeneous in base composition and belong to a small number of major classes distinguished by differences in guanine-cytosine (GC ...
Isochromosome: idic: Isodicentric chromosome (duplication & inversion of centromere-containing segment) ins: Insertion: inv: Inversion.ish: Precedes karyotype results from FISH analysis mar: Marker chromosome: mat: Maternally-derived chromosome rearrangement p: Short arm of a chromosome pat: Paternally-derived chromosome rearrangement psu dic