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Polyploidy occurs in some tissues of animals that are otherwise diploid, such as human muscle tissues. [45] This is known as endopolyploidy . Species whose cells do not have nuclei, that is, prokaryotes , may be polyploid, as seen in the large bacterium Epulopiscium fishelsoni . [ 46 ]
The extreme in polyploidy occurs in the fern genus Ophioglossum, the adder's-tongues, in which polyploidy results in chromosome counts in the hundreds, or, in at least one case, well over one thousand. [citation needed] It is possible for polyploid organisms to revert to lower ploidy by haploidisation. [citation needed]
The main goals of diploidization are: (1) To ensure proper gene dosage; and (2) to maintain stable cellular division processes. This process does not need to occur rapidly for all chromosomes in one or few steps. In recent polyploid events, segments of the genome may still remain in a tetraploid status.
So, humans have two sets of 23 chromosomes in each cell that contains a nucleus. One set of 23 chromosomes (n) is from the mother (22 autosomes, 1 sex chromosome (X only)) and one set of 23 chromosomes (n) is from the father (22 autosomes, 1 sex chromosome (X or Y)). Ultimately, this means that humans are diploid (2n) organisms. [2]
Trisomy 21 – Down syndrome, an example of a polysomy at chromosome 21 Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. [1]
This article provides a comprehensive list of anatomical variations, which are naturally occurring differences in human morphology. These variations are not considered defects or abnormalities but rather normal deviations that do not inherently indicate pathology.
Many organ systems are affected by triploidy, but the central nervous system and skeleton are the most severely affected: . Common central nervous system defects seen in triploidy include holoprosencephaly, hydrocephalus (increased amount of cerebrospinal fluid within the brain), ventriculomegaly, Arnold–Chiari malformation, agenesis of the corpus callosum and neural tube defects.
Karyotype of a human with Trisomy 21 (Down syndrome). Trisomies can occur with any chromosome, but often result in miscarriage rather than live birth.For example, Trisomy 16 is most common in human pregnancies, occurring in more than 1%, but the only surviving embryos are those having some normal cells in addition to the trisomic cells (mosaic trisomy 16). [3]