Trisomy - Wikipedia, the free encyclopedia

http://en.wikipedia.org/wiki/Trisomy

Trisomy
From Wikipedia, the free encyclopedia

A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two.[1] A trisomy is a type of aneuploidy (an abnormal number of chromosomes).

Trisomy
Classification and external resources

Contents
1 Description and causes 1.1 Terminology 2 Human trisomy 2.1 See also 3 References

Example of Trisomy 21 detected via qPCR Short Tandem Repeat assay ICD-10 Q90 (http://apps.who.int /classifications/icd10/browse /2010/en#/Q90)-Q92 (http://apps.who.int /classifications/icd10/browse /2010/en#/Q92) Q97 (http://apps.who.int /classifications/icd10/browse /2010/en#/Q97)-Q98 (http://apps.who.int /classifications/icd10/browse /2010/en#/Q98) MeSH D014314 (http://www.nlm.nih.gov /cgi/mesh /2013/MB_cgi?field=uid& term=D014314)

Description and causes

Most organisms that reproduce sexually have pairs of chromosomes in each cell, with one chromosome inherited from each parent. In such organisms, a process called meiosis creates cells called gametes (eggs or sperm) that have only one set of chromosomes. The number of chromosomes is different for different species. Human beings have 46 chromosomes (i.e. 23 pairs of chromosomes). Human gametes have only 23 chromosomes.

If the chromosome pairs fail to separate properly during cell division, the egg or sperm may end up with a second copy of one of the chromosomes. (See non-disjunction.) If such a gamete results in fertilization and an embryo, the resulting embryo of the extra chromosome.

may also have an entire copy

Terminology
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Trisomy - Wikipedia, the free encyclopedia

http://en.wikipedia.org/wiki/Trisomy

"Full trisomy" means that an entire extra chromosome has been copied. "Partial trisomy" means that there is an extra copy of part of a chromosome. Trisomies are sometimes characterised as "Autosomal trisomies" (trisomies of the non-sex chromosomes) and "Sex-chromosome trisomies." Autosomal trisomies are described by referencing the specific chromosome that has an extra copy.[citation needed] Thus, for example, the presence of an extra chromosome 21, which is found in Down syndrome, is called trisomy 21.

Human trisomy
Trisomies can occur with any chromosome, but often result in miscarriage. For example, Trisomy 16 is the most common trisomy in human pregnancies, occurring in more than 1% of pregnancies; only those where there are a number of cells with a normal complement of chromosomes called mosaic trisomy 16 survive.[2] This condition, however, usually results in spontaneous miscarriage in the first trimester. The most common types of autosomal trisomy that survive to birth in humans are: Trisomy Trisomy Trisomy Trisomy Trisomy Trisomy 21 (Down syndrome) 18 (Edwards syndrome) 13 (Patau syndrome) 9 8 (Warkany syndrome 2) 22

Of these, Trisomy 21 and Trisomy 18 are the most common. In rare cases, a fetus with Trisomy 13 can survive, giving rise to Patau syndrome. Autosomal trisomy can be associated with birth defects, mental retardation and shortened life expectancy. Trisomy of sex chromosomes[citation needed][3] can also occur: XXX (Triple X syndrome) XXY (Klinefelter syndrome) XYY

See also
Chromosome abnormalities Aneuploidy Karyotype Sexual reproduction Monosomy

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Trisomy - Wikipedia, the free encyclopedia

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References
1. ^ "CRC - Glossary T" (http://cll.ucsd.edu/glossary/glossary_t.html). Retrieved 2007-12-23. 2. ^ Hassold, T; Merrill, M; Adkins, K; Freeman, S; Sherman, S (1995). "Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16" (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801507). American Journal of Human Genetics 57 (4): 86774. PMC 1801507 (//www.ncbi.nlm.nih.gov /pmc/articles/PMC1801507). PMID 7573048 (//www.ncbi.nlm.nih.gov/pubmed /7573048). 3. ^ Disputable term: https://en.wikipedia.org /wiki/Talk:Trisomy#Trisomy_of_.2Asex.2A_chromosomes.3F

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