Trisomy

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Trisomy
Classification and external resources
Example of Trisomy 21 detected via qPCR Short Tandem Repeat assay
ICD-10 Q90.-Q92.
Q97.-Q98.
MeSH D014314

A trisomy is a form of aneuploidy with the presence of three copies, instead of the normal two, of a particular chromosome.[1] The presence of an extra chromosome 21, which is found in Down syndrome, is called trisomy 21.

Contents

[edit] Causes

[edit] Full

Full trisomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and sperm cells (gametogenesis). This can result in an extra or missing chromosome (either 24 or 22 chromosomes instead of the typical 23) in a sperm or egg cell. After fertilization, the resulting fetus has 47 chromosomes instead of the typical 46.

[edit] Partial/mosaic

A partial trisomy occurs when part of an extra chromosome is attached to one of the other chromosomes, or if one of the chromosomes has two copies of part of its chromosome.

A mosaic trisomy is a condition where extra chromosomal material exists in only some of the organism's cells.

[edit] Human trisomy

Trisomies can occur with any chromosome, but often result in miscarriage. For example, Trisomy 16 is the most common trisomy in humans, occurring in more than 1% of pregnancies. This condition, however, usually results in spontaneous miscarriage in the first trimester. The most common types of trisomy that survive to birth in humans are:

[edit] Autosomal trisomies

The most common forms of autosomal trisomy are trisomy of chromosome 21 which results in Down syndrome and trisomy of chromosome 18 which results in Edwards syndrome. In rare cases, a fetus with trisomy of chromosome 13 can survive, giving rise to Patau syndrome. Autosomal trisomy can be associated with birth defects, mental retardation and shortened life expectancy.

[edit] Sex-chromosome trisomies

Trisomy of sex chromosomes can also occur:

trisomies in human pregnancies and estimated proportion surviving to term[2]
Trisomy Spontaneous
abortion
(n=4088)
 %		 Stillbirths
(n=624)

 %		 Livebirths
(n=565953)

 %		 All clinical
recognized
pregnacies
 %		 Liveborn


%
47, + 2 1.1 - - 0.16 0
47, + 3 0.3 - - 0.04 0
47, + 4 0.8 - - 0.12 0
47, + 5 0.1 - - 0.02 0
47, + 6 0.3 - - 0.04 0
47, + 7 0.9 - - 0.14 0
47, + 8 0.8 - - 0.12 0
47, + 9 0.7 0.2 - 0.10 0
47, + 10 0.5 - - 0.07 0
47, + 11 0.1 - - 0.01 0
47, + 12 0.2 - - 0.02 0
47, + 13 1.1 0.3 0.005 0.18 2.8
47, + 14 1.0 - - 0.14 0
47, + 15 1.7 - - 0.26 0
47, + 16 7.5 - - 1.13 0
47, + 17 0.1 - - 0.02 0
47, + 18 1.1 1.1 0.01 0.18 5.4
47, + 20 0.6 - - 0.09 0
47, + 21 2.3 1.3 0.13 0.45 23.8
47, + 22 2.7 0.2 - 0.40 0
XXY 0.2 0.2 0.05 0.08 53.0
XXX 0.1 0.2 0.05 0.05 94.4
XYY - - 0.05 0.04 100
Mosaic trisomy 1.1 0.5 0.02 0.18 9.0
Double trisomy 0.8 - - 0.12 0
Total trisomy 26.1 4.0 0.3 4.1 6.0

[edit] References

  1. ^ CRC - Glossary T. Retrieved on 2007-12-23.
  2. ^ Terry J. Hassold and Patricia A. Jacobs (1984). "trisomy in man". Ann. Rev. Genet. 18: 69-97. 
v • d • e
Pathology: chromosome abnormalities (Q90-Q99, 758)
Autosomal trisomies
Autosomal monosomies/deletions
X/Y linked
Translocations
Other