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

• Chromosome 20 Disorders

What are Disorders of Chromosome 20? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 20. 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 20 Disorders are disorders involving chromosome 20. Some of the disorders include:

Chromosome 20p Deletion Syndrome: Chromosome 20p Deletion Syndrome is a genetic disorder caused by the loss of genetic material on the short arm of chromosome 20. Although congenital heart defects are not a defining feature of this syndrome, individuals with this condition may experience a range of health issues. Common symptoms may include intellectual disability, developmental delays, distinctive facial features, and other physical abnormalities. Treatment focuses on managing the specific symptoms and providing supportive care to address developmental, educational, and medical needs.

Chromosome 20p Duplication Syndrome: Chromosome 20p Duplication Syndrome is a genetic condition characterized by an extra copy of genetic material on the short arm of chromosome 20. While the specific association with congenital heart defects is unclear, this syndrome can result in various physical and developmental challenges. Common signs and symptoms may include intellectual disability, developmental delays, distinctive facial features, and other physical abnormalities. Treatment involves managing the specific symptoms and providing supportive care tailored to the individual's needs.

Ring Chromosome 20 Syndrome: Ring Chromosome 20 Syndrome is a rare genetic disorder characterized by a ring-shaped chromosome 20. It can lead to various health issues, but the specific association with congenital heart defects is unclear. Common symptoms may include intellectual disability, developmental delays, distinctive facial features, and other physical and neurological abnormalities. Treatment focuses on managing the specific symptoms and providing supportive care to address developmental, educational, and medical needs.

Alagille syndrome: Alagille Syndrome is a genetic disorder caused by mutations in the JAG1 or NOTCH2 genes. It is characterized by liver abnormalities, including bile duct paucity, as well as other clinical features. While heart defects, specifically peripheral pulmonary artery stenosis, are common in Alagille syndrome, it is important to note that not all individuals with the syndrome will have congenital heart defects. Treatment aims to manage the specific symptoms, which may include medical management for liver and heart issues, and providing supportive care to address developmental, educational, and medical needs.

This article is a resource with links to other more specific disorders. Information on each Chromosome 20 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