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A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [ 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 ...
It may not always be known how a clastogen causes chromosomal damage. Radiation was the earliest known clastogen that caused direct DNA damage, following the classic breaks theory. [ 6 ] DNA is frequently damaged and there are many DNA repair pathways that combat this, but repair does not always work perfectly resulting in mistakes (called a ...
Most dicentric chromosomes are known to form through chromosomal inversions, which are rotations in regions of a chromosome due to chromosomal breakages or intra-chromosomal recombinations. [2] Inversions that exclude the centromere are known as paracentric inversions, which result in unbalanced gametes after meiosis. [2]
Chromosomes display a banded pattern when treated with some stains. Bands are alternating light and dark stripes that appear along the lengths of chromosomes. Unique banding patterns are used to identify chromosomes and to diagnose chromosomal aberrations, including chromosome breakage, loss, duplication, translocation or inverted segments.
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]
The clastogenic or aneugenic effects from the genotoxic damage will cause an increase in frequency of structural or numerical aberrations of the genetic material. [6] This is similar to the micronucleus test and chromosome aberration assay, which detect structural and numerical chromosomal aberrations in mammalian cells. [1]
Comparative genomic hybridization (CGH), derived from FISH, is used to compare variations in copy number between a biological sample and a reference. CGH was originally developed to observe chromosomal aberrations in tumour cells. This method uses two genomes, a sample and a control, which are labeled fluorescently to distinguish them. [5]
Some chromosomal aberrations have been linked to cancer and inherited genetic disorders, and the chromosomes of many tumor cells exhibit irregular bands. To understand more about what causes these conditions, scientists hope to determine which genes and DNA sequences are located near these unusual bands.