What are the other Names for this Condition? (Also known as/Synonyms)

• Chromosome 22 Disorders

What are Disorders of Chromosome 22? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 22. Some are more common than others. Researchers know more about certain chromosomal disorders than others. Information is constantly being added through research, better documentation, and increased awareness.

Chromosomes are microscopic protein structures present in each cell nucleus that carry genetic information in the form of DNA (deoxyribonucleic acid). Humans have 46 chromosomes in the cell nucleus, in 23 pairs, of which one pair is named the sex chromosome. In males, it is designated XY, for chromosome X and chromosome Y; while, in females, it is designated XX, for a pair of chromosome X. The other 22 pairs of chromosomes are numbered chromosome 1 through 22.

During conception, the embryo inherits one copy of each chromosome from each parent (i.e., mother and father). Any alteration in the chromosome numbers or structure can result in mild to severe genetic abnormalities. Specialized genetic testing techniques are often required to confirm the diagnosis.

Chromosome 22 Disorders are disorders involving chromosome 22. Some of the disorders include:

Chromosome 22q Duplication Syndrome: Chromosome 22q Duplication Syndrome is a genetic condition characterized by an extra copy of genetic material on chromosome 22. While the specific association with congenital heart defects is unclear, this syndrome can lead to various physical and developmental challenges. Common symptoms may include intellectual disability, delayed speech and language skills, behavioral issues, and distinctive facial features. Treatment focuses on managing the specific symptoms and providing support for developmental and educational needs.

Chromosome 22q11.2 Deletion Syndrome: Chromosome 22q11.2 Deletion Syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome (VCFS), is a genetic disorder caused by the deletion of a specific region on the long arm of chromosome 22. It is associated with congenital heart defects, among other health issues. Common signs and symptoms may include heart abnormalities, immune system deficiencies, cleft palate, distinctive facial features, developmental delays, and learning difficulties. Treatment involves managing the specific symptoms and providing comprehensive care to address medical, developmental, and educational needs.

Cat Eye Syndrome: Cat Eye Syndrome, also known as Schmid-Fraccaro Syndrome, is a genetic disorder characterized by an abnormality on chromosome 22. It is named after the distinctive appearance of the eyes in affected individuals. While congenital heart defects can occur in Cat Eye Syndrome, they are not universal. Other common symptoms may include intellectual disability, developmental delays, distinctive facial features, and abnormalities in various organ systems. Treatment focuses on managing the specific symptoms and providing supportive care tailored to the individual's needs.

Mosaic Trisomy 22 Syndrome: Mosaic Trisomy 22 Syndrome is a chromosomal disorder characterized by the presence of an extra copy of chromosome 22 in some, but not all, cells of the body. It can result in various health issues, including congenital heart defects. Common symptoms may include intellectual disability, developmental delays, growth abnormalities, and distinctive facial features. Treatment focuses on managing the specific symptoms and providing supportive care tailored to the individual's needs.

Trisomy 22 Syndrome: Trisomy 22 Syndrome is a chromosomal abnormality characterized by the presence of an extra copy of chromosome 22 in all cells of the body. It can lead to multiple congenital abnormalities, including heart defects. Common signs and symptoms may include intellectual disability, growth retardation, distinct facial features, skeletal abnormalities, and organ malformations. Treatment involves supportive care to manage the medical and developmental challenges associated with the syndrome.

Ring Chromosome 22 Syndrome: Ring Chromosome 22 Syndrome is a rare genetic disorder characterized by a ring-shaped chromosome 22. It can lead to various health issues, including congenital heart defects. Common signs and symptoms may include intellectual disability, developmental delays, distinctive facial features, growth and feeding difficulties, and skeletal abnormalities. Treatment focuses on managing the specific symptoms and providing supportive care to address developmental, educational, and medical needs.

MYH9-Related Disorder: MYH9-Related Disorder is a genetic condition caused by mutations in the MYH9 gene. While it primarily affects blood cells and can lead to a range of blood-related issues, including thrombocytopenia (low platelet count), it can also be associated with heart abnormalities. Treatment focuses on managing the specific symptoms and complications of the disorder, which may include medical interventions for blood-related issues and regular monitoring of heart health.

This article is a resource with links to other more specific disorders. Information on each Chromosome 22 Disorder may be viewed by clicking on the respective subtypes (above).

Information to join DoveMed’s patient forum called MyCIrcles to learn and manage the condition is also included. We are adding more information to this page periodically. Please bookmark this page for future reference and visit for updated content.

You can join Chromosome Disorders MyCircles patient forum by visiting here: https://www.dovemed.com/mycircles/circles/all