Sunday, January 29, 2012

What Is TRISOMY 22 ?

What Is TRISOMY 22

Trisomy 22 may be a chromosomal disorder within which there are 3 copies of chromosome 22 instead of two. it's a frequent reason behind spontaneous abortion throughout the primary trimester of pregnancy. Progression to the second trimester and livebirth are rare. This disorder is found in people with an additional copy or a variation of chromosome twenty two in each cell of their body. There are several styles of disorders related to Trisomy 22:

* Emanuel Syndrome is known as when the genetic contributions created by researcher Dr. Beverly Emanuel. This condition is assigned to people born with an unbalanced 11/22 translocation. That is, when a fraction of chromosome eleven is moved, or translocated to chromosome twenty two.

* 22q11 Deletion Syndrome may be a rare condition that happens in approximately one in 4000 births. This condition is identified when a band within the q11.2 section of the arm of chromosome two is missing or deleted. This condition has many completely different names, The 22q11.2 Deletion Sydrome, Velocardiofacial syndrome, DiGeorge Syndrome, Conotruncal Anomaly Face syndrome, Opitz G/ BBB Syndrome, Cayler Cardiofacial Syndrome. The effects of this disorder are completely different in every individual however similarities exist like, heart defects, immune system issues, a particular facial look, learning challenges, cleft palate, hearing loss, kidney issues, hypocalcemia, and typically psychiatric problems.

* 22q11 microduplication syndrome is that the opposite of the 22q11 deletion syndrome, during this condition, a band of q.11.2 section of chromosome two is duplicated. people carrying this deficiency are comparatively “normal” as in they don’t possess any major birth defects or major medical diseases. This microduplication is a lot of common than the deletion; this may be because of the milder phenotype of the people.

* Phelan-McDermid Syndrome / twenty twoq13 Deletion Syndrome may be a condition caused by the deletion of the tip of the q arm on chromosome 22. most people with this disorder expertise cognitive delays in addition as low muscle tone and sleeping, eating and behavioural problems.

* Chromosome Ring twenty two may be a rare disorder caused by the break and re-join of each ends of chromosome twenty two, forming a hoop. the consequences on the individual with this disorder are obsessed on the number of genetic data lost throughout the break/re-join. Major characteristics for this disorder are mental retardation, muscle weakness and lack of coordination.

* Cat Eye Syndrome / Schmid Fraccaro Syndrome may be a condition caused by a partial trisomy or tetrasomy in chromosome twenty two. atiny low additional chromosome is found, created of the highest 1/2 chromosome twenty two and some of the q arm at the q11.2 break. This chromosome is found 3 or four times. This syndrome is referred as “Cat Eye” because of the attention look of reported affected people who have coloboma of the iris ; but, this feature is merely seen in regarding 1/2 the cases.

* Mosaic trisomy 22 may be a disorder within which an additional chromosome twenty two is found solely in some cells of the body. The severity of every case is decided by the amount of cells with this additional copy. Some characteristics of people with this condition are cardiac abnormalities, growth retardation, mental delay, etc..

* Complete Trisomy 22 is in distinction with Mosaic trisomy twenty two; this disorder is characterised by an additional copy of chromosome 22 that is found in every cell of the body of the affected individual. These cases are terribly rare, and most of the affected people die before birth or shortly when.

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