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Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome.The syndrome is associated with epileptic seizures, behaviour disorders and intellectual disability.
Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.
The following is a partial list of genes on human chromosome 1. For complete list, see the link in the infobox on the right. C1orf112: encoding protein Chromosome 1 open reading frame 112; C1orf127: encoding protein Chromosome 1 open reading frame 127; C1orf27: encoding protein Chromosome 1 open reading frame 27
Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. [1] It is the most common trisomy leading to miscarriage and the second most common chromosomal cause of it, closely following X-chromosome monosomy. [2] About 6% of miscarriages have trisomy 16. [3]
Chromosome 15 is one of the 23 pairs of chromosomes in humans.People normally have two copies of this chromosome. Chromosome 15 spans about 99.7 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DNA in cells.
[1] [2] A majority of i(Xq) are created by U-type strand exchange. A breakage and reunion in the pericentric region of the p arm results in a dicentric isochromosome. [4] Some of the p arm can be found in this formation of i(Xq), but a majority of the genetic material on the p arm is lost so it is considered absent.
Mosaic Down syndrome is when some of the cells in the body do not have trisomy 21 and some cells have trisomy 21, an arrangement called a mosaic (46,XX/47,XX,+21). [6] [7] This can occur in one of two ways: A nondisjunction event during an early cell division leads to a fraction of the cells with trisomy 21;
[note 2] Advanced maternal age is mildly associated with trisomy X. Women with trisomy X can have children of their own, who in most cases do not have an increased risk of chromosome disorders; women with mosaic trisomy X, who have a mix of 46,XX (the typical female karyotype) and 47,XXX cells, may have an increased risk of chromosomally ...