Aneuploidy in the context of "Chromosome abnormality"

Meiosis (/maɪˈoʊsɪs/ ) is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, the sperm or egg cells. It involves two rounds of division that ultimately result in four cells, each with only one copy of each chromosome (haploid). Additionally, prior to the division, genetic material from the paternal and maternal copies of each chromosome is crossed over, creating new combinations of code on each chromosome. Later on, during fertilisation, the haploid cells produced by meiosis from a male and a female will fuse to create a zygote, a cell with two copies of each chromosome.

Errors in meiosis resulting in aneuploidy (an abnormal number of chromosomes) are the leading known cause of miscarriage and the most frequent genetic cause of developmental disabilities.

Carcinogenesis, also called oncogenesis or tumorigenesis, is the formation of a cancer, whereby normal cells are transformed into cancer cells. The process is characterized by changes at the cellular, genetic, and epigenetic levels and abnormal cell division. Cell division is a physiological process that occurs in almost all tissues and under a variety of circumstances. Normally, the balance between proliferation and programmed cell death, in the form of apoptosis, is maintained to ensure the integrity of tissues and organs. According to the prevailing accepted theory of carcinogenesis, the somatic mutation theory, mutations in DNA and epimutations that lead to cancer disrupt these orderly processes by interfering with the programming regulating the processes, upsetting the normal balance between proliferation and cell death. This results in uncontrolled cell division and the evolution of those cells by natural selection in the body. Only certain mutations lead to cancer whereas the majority of mutations do not.

Variants of inherited genes may predispose individuals to cancer. In addition, environmental factors such as carcinogens and radiation cause mutations that may contribute to the development of cancer. Finally random mistakes in normal DNA replication may result in cancer-causing mutations. A series of several mutations to certain classes of genes is usually required before a normal cell will transform into a cancer cell. Recent comprehensive patient-level classification and quantification of driver events in TCGA cohorts revealed that there are on average 12 driver events per tumor, of which 0.6 are point mutations in oncogenes, 1.5 are amplifications of oncogenes, 1.2 are point mutations in tumor suppressors, 2.1 are deletions of tumor suppressors, 1.5 are driver chromosome losses, 1 is a driver chromosome gain, 2 are driver chromosome arm losses, and 1.5 are driver chromosome arm gains. Mutations in genes that regulate cell division, apoptosis (cell death), and DNA repair may result in uncontrolled cell proliferation and cancer.

Gene duplication (or chromosomal duplication or gene amplification) is a mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene. Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage.

Sex linkage describes the sex-specific patterns of inheritance and expression when a gene is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). Genes situated on the X-chromosome are thus termed X-linked, and are transmitted by both males and females, while genes situated on the Y-chromosome are termed Y-linked, and are transmitted by males only. As human females possess two X-chromosomes and human males possess one X-chromosome and one Y-chromosome, the phenotype of a sex-linked trait can differ between males and females due to the differential number of alleles (polymorphisms) possessed for a given gene. In humans, sex-linked patterns of inheritance are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes sex-linked patterns of inheritance characteristically different from autosomal dominance and recessiveness. This article will discuss each of these patterns of inheritance, as well as diseases that commonly arise through these sex-linked patterns of inheritance. Variation in these inheritance patterns arising from aneuploidy of sex chromosomes, sex-linkage in non-human animals, and the history of the discovery of sex-linked inheritance are briefly introduced.

The parasexual cycle, a process restricted to fungi and single-celled organisms, is a nonsexual mechanism of parasexuality for transferring genetic material without meiosis or the development of sexual structures. It was first described by Italian geneticist Guido Pontecorvo in 1956 during studies on Aspergillus nidulans (also called Emericella nidulans when referring to its sexual form, or teleomorph). A parasexual cycle is initiated by the fusion of hyphae (anastomosis) during which nuclei and other cytoplasmic components occupy the same cell (heterokaryosis and plasmogamy). Fusion of the unlike nuclei in the cell of the heterokaryon results in formation of a diploid nucleus (karyogamy), which is believed to be unstable and can produce segregants by recombination involving mitotic crossing-over and haploidization. Mitotic crossing-over can lead to the exchange of genes on chromosomes; while haploidization probably involves mitotic nondisjunctions which randomly reassort the chromosomes and result in the production of aneuploid and haploid cells. Like a sexual cycle, parasexuality gives the species the opportunity to recombine the genome and produce new genotypes in their offspring. Unlike a sexual cycle, the process lacks coordination and is exclusively mitotic.

The parasexual cycle resembles sexual reproduction. In both cases, unlike hyphae (or modifications thereof) may fuse (plasmogamy) and their nuclei will occupy the same cell. The unlike nuclei fuse (karyogamy) to form a diploid (zygote) nucleus. In contrast to the sexual cycle, recombination in the parasexual cycle takes place during mitosis followed by haploidization (but without meiosis). The recombined haploid nuclei appear among vegetative cells, which differ genetically from those of the parent mycelium.