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Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells (nondisjunction). Most cases of aneuploidy in the autosomes result in miscarriage, and the most common extra autosomal chromosomes among live births are 21, 18 and 13. [5] Chromosome abnormalities are detected in 1 of 160 live human ...
True polyploidy rarely occurs in humans, although polyploid cells occur in highly differentiated tissue, such as liver parenchyma, heart muscle, placenta and in bone marrow. [63] [64] Aneuploidy is more common.
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]
Polyploidy is also a well known source of speciation, as offspring, which have different numbers of chromosomes compared to parent species, are often unable to interbreed with non-polyploid organisms. Whole genome duplications are thought to be less detrimental than aneuploidy as the relative dosage of individual genes should be the same.
[5] [6] Aneuploidy can be full, involving a whole chromosome missing or added, or partial, where only part of a chromosome is missing or added. [5] Aneuploidy can occur with sex chromosomes or autosomes. [citation needed] Rather than having monosomy, or only one copy, the majority of aneuploid people have trisomy, or three copies of one chromosome.
Aneuploidy of autosomes is not well tolerated and usually results in miscarriage of the developing fetus. Fetuses with aneuploidy of gene-rich chromosomes—such as chromosome 1 —never survive to term, [ 9 ] and fetuses with aneuploidy of gene-poor chromosomes—such as chromosome 21 — are still miscarried over 23% of the time. [ 10 ]
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]
Polyploidy and aneuploidy are common phenomena in cancer cells. [6] Given that oncogenesis and endoreduplication likely involve subversion of common cell cycle regulatory mechanisms, a thorough understanding of endoreduplication may provide important insights for cancer biology.