Trisomy 22: Difference between revisions

Revision as of 16:13, 9 February 2025

A chromosomal disorder involving an extra chromosome 22

Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 instead of the usual two. This condition can lead to a variety of developmental and physical abnormalities.

Presentation

Trisomy 22 can manifest in several forms, including full trisomy 22, mosaic trisomy 22, and partial trisomy 22. Each form has distinct characteristics and outcomes.

Full Trisomy 22

Full trisomy 22 is typically not compatible with life, and most affected pregnancies result in miscarriage. It is one of the more common chromosomal abnormalities found in miscarriages.

Mosaic Trisomy 22

In mosaic trisomy 22, some cells have the extra chromosome while others do not. This can result in a wide range of symptoms, from mild to severe, depending on the proportion of affected cells.

Partial Trisomy 22

Partial trisomy 22 occurs when only a segment of chromosome 22 is present in triplicate. The symptoms and severity depend on the specific segment that is duplicated.

Symptoms

Individuals with trisomy 22 may exhibit a variety of symptoms, including:

Developmental delays
Intellectual disability
Congenital heart defects
Distinctive facial features
Growth retardation

Diagnosis

Trisomy 22 is typically diagnosed through prenatal testing methods such as amniocentesis or chorionic villus sampling, which can detect chromosomal abnormalities. Postnatal diagnosis may involve a karyotype analysis to confirm the presence of an extra chromosome 22.

Prognosis

The prognosis for individuals with trisomy 22 varies widely depending on the type and severity of the condition. Full trisomy 22 is usually fatal, while individuals with mosaic or partial trisomy 22 may survive with varying degrees of disability.

Management

Management of trisomy 22 is supportive and symptomatic, focusing on addressing the specific health issues and developmental needs of the individual. This may involve a team of specialists, including pediatricians, cardiologists, and developmental therapists.

Related pages

References

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-'''Trisomy 22''' is a [[chromosome]] disorder in which an individual has an extra copy of [[chromosome 22]]. This condition is a type of [[aneuploidy]] and is often associated with [[miscarriage]], [[stillbirth]], and [[birth defects]].
+{{Short description|A chromosomal disorder involving an extra chromosome 22}}
+{{Use dmy dates|date=October 2023}}
-==Causes==
+'''Trisomy 22''' is a chromosomal disorder in which there are three copies of [[chromosome 22]] instead of the usual two. This condition can lead to a variety of developmental and physical abnormalities.
-Trisomy 22 is caused by a mistake in cell division called [[nondisjunction]]. This error can occur in either the [[sperm]] or the [[egg]] before they combine to form an [[embryo]]. The resulting embryo has three copies of chromosome 22 instead of the usual two.
+==Presentation==
+Trisomy 22 can manifest in several forms, including full trisomy 22, mosaic trisomy 22, and partial trisomy 22. Each form has distinct characteristics and outcomes.
+===Full Trisomy 22===
+Full trisomy 22 is typically not compatible with life, and most affected pregnancies result in [[miscarriage]]. It is one of the more common chromosomal abnormalities found in miscarriages.
+===Mosaic Trisomy 22===
+In mosaic trisomy 22, some cells have the extra chromosome while others do not. This can result in a wide range of symptoms, from mild to severe, depending on the proportion of affected cells.
+===Partial Trisomy 22===
+Partial trisomy 22 occurs when only a segment of chromosome 22 is present in triplicate. The symptoms and severity depend on the specific segment that is duplicated.
 ==Symptoms==
-The symptoms of Trisomy 22 can vary widely, depending on how many cells have the extra chromosome and where those cells are in the body. Common symptoms include [[growth retardation]], [[microcephaly]] (small head), [[hypertelorism]] (wide-set eyes), [[cleft palate]], [[heart defects]], and [[mental retardation]].
+Individuals with trisomy 22 may exhibit a variety of symptoms, including:
+* Developmental delays
+* Intellectual disability
+* Congenital heart defects
+* Distinctive facial features
+* Growth retardation
 ==Diagnosis==
-Trisomy 22 can be diagnosed before birth through [[prenatal testing]]. This can include [[amniocentesis]] or [[chorionic villus sampling]] (CVS). After birth, the condition can be diagnosed through a [[karyotype]] test, which examines the number and structure of a person's chromosomes.
+Trisomy 22 is typically diagnosed through [[prenatal testing]] methods such as [[amniocentesis]] or [[chorionic villus sampling]], which can detect chromosomal abnormalities. Postnatal diagnosis may involve a [[karyotype]] analysis to confirm the presence of an extra chromosome 22.
-==Treatment==
+==Prognosis==
-There is no cure for Trisomy 22. Treatment is focused on managing the symptoms and improving the quality of life for the individual. This can include [[physical therapy]], [[occupational therapy]], [[speech therapy]], and [[special education]] services.
+The prognosis for individuals with trisomy 22 varies widely depending on the type and severity of the condition. Full trisomy 22 is usually fatal, while individuals with mosaic or partial trisomy 22 may survive with varying degrees of disability.
-==Prognosis==
+==Management==
-The prognosis for individuals with Trisomy 22 varies widely, depending on the severity of symptoms and the presence of other health conditions. Many individuals with Trisomy 22 have a shortened life expectancy due to the associated health problems.
+Management of trisomy 22 is supportive and symptomatic, focusing on addressing the specific health issues and developmental needs of the individual. This may involve a team of specialists, including pediatricians, cardiologists, and developmental therapists.
-==See also==
+==Related pages==
-* [[Chromosome abnormalities]]
+* [[Chromosomal disorder]]
-* [[Genetic disorders]]
+* [[Karyotype]]
 * [[Prenatal diagnosis]]
+==References==
+{{Reflist}}
+[[File:Human male karyotpe high resolution - Chromosome 22 cropped.png|thumb|right|Chromosome 22]]
 [[Category:Genetic disorders]]
 [[Category:Chromosomal abnormalities]]
-[[Category:Rare diseases]]
-{{stub}}