List of Disorders of Chromosome 22

Humans have 46 chromosomes, consisting of 23 pairs in each cell. A copy of chromosome 12 from each parent, well coordinated, inherited. It is considered one of the smallest human chromosomes, which constitute 1.5 to two percent of the total DNA in each cell. When the Human Genome Project began in 1999, scientists have sequenced the entire chromosome 22 Researchers have also shown that chromosome 22 contains about 500-800 genes that are responsible for performing various bodily functions.

There are 23 pairs of chromosomes in humans.  Genetic diseases are caused by a mutation of at least one of these chromosomes.  Chromosome 22 disorders are the result of mutation.

Humans have 46 chromosomes, consisting of 23 pairs in each cell.  A copy of chromosome 12 from each parent, well coordinated, inherited.  It is considered one of the smallest human chromosomes, which constitute 1.5 to 2 percent of the total DNA in each cell.  When the Human Genome Project began in 1999, scientists have sequenced the entire chromosome 22  Researchers have also shown that chromosome 22 contains about 500-800 genes that are responsible for performing various bodily functions.

There are several genetic conditions associated with changes in existing genes on chromosome 22  The change in copy number or structure can lead to health problems and development.  There are several chromosomal conditions that are linked to chromosome 22
22q11.2 deletion syndrome

It turns out that there are about three million base pairs (bp) the absence of one copy of chromosome 22 in each cell.  The deletion occurs at the middle and at a specific location, which is designated q11.2.  This region consists of about 30-40 genes, but are not well differentiated.  But, called the loss of a gene Tbx1 is considered responsible for the syndrome.  These errors include heart problems, cleft palate, low levels of calcium, and characteristic facial features, etc. In addition, called the loss of a gene COMT region closer is responsible for mental and behavioral problems.
22q11.2 duplication

As the name implies, this disease caused by the addition of an extra copy of genetic material into certain position q11.2 of chromosome 22  The extra genetic material consists of about three million base pairs.  Reproduction has an effect on a copy of chromosome 22 in each cell.  This syndrome can lead to delayed development.
22q13.3 deletion syndrome

This syndrome is due to the removal of the end of the arm (q) of chromosome 22  In addition, a ring chromosome also 22.13.3q deletion syndrome.  It is a circular structure that occurs when a chromosome breaks into two pieces.  The end of the chromosome is lost and broken ends together.  The loss of a gene called SHANK3 considered responsible for many of the qualities 2213.3q deletion syndrome.  Gene caused birth include developmental delay, language delay and mental retardation, etc.
Emanuel Syndrome

This type of genetic disease due to the presence of genetic material on chromosome 11 extra chromosome 22 in each cell.  Emanuel syndrome patients have an extra chromosome that consists of a piece of chromosome 11 linked to chromosome 22  This extra chromosome is called where (22) chromosomes.  Therefore people with this genetic syndrome carry three copies of the corresponding genes in each cell instead of two normal copies.  additional disorders of genetic material during normal development.
Cat-eye syndrome

This is a rare disease that is caused by a chromosomal rearrangement known as inverted duplicated 22  People who suffer from cat eye syndrome have at least a small extra chromosome consisting of a 22-chromosome genetic material has been unusually strong.  People with this syndrome have an abnormality in the eye, small hole in the ear, heart, kidney defects and developmental delays, etc.

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