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

• Chromosome 13 Disorders

What are Disorders of Chromosome 13? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 13. 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 13 Disorders are disorders involving chromosome 13. Some of the disorders include:

Chromosome 13q Deletion Syndrome: Chromosome 13q Deletion Syndrome is a rare genetic disorder caused by the deletion of a portion of the long arm of chromosome 13. While congenital heart defects can be associated with this syndrome, the specific symptoms may vary. Common features include intellectual disability, developmental delays, distinctive facial features, growth abnormalities, and other systemic issues. Treatment focuses on managing the individual's specific symptoms and providing supportive care through therapies and interventions tailored to their needs.

Chromosome 13q Duplication Syndrome: Chromosome 13q Duplication Syndrome is a rare genetic condition characterized by the presence of an extra copy of a portion of the long arm of chromosome 13. While congenital heart defects are not commonly associated with this syndrome, individuals may experience intellectual disability, developmental delays, distinctive facial features, growth abnormalities, and other variable symptoms. Treatment primarily focuses on managing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

Ring Chromosome 13 Syndrome: Ring Chromosome 13 Syndrome is a rare chromosomal disorder where the genetic material of chromosome 13 forms a ring structure. While congenital heart defects can occur in individuals with this syndrome, symptoms may vary widely. Common features include intellectual disability, developmental delays, distinctive facial features, growth abnormalities, and other systemic issues. Treatment involves managing the specific symptoms and providing supportive care through therapies and interventions to optimize the individual's overall well-being.

Trisomy 13 Syndrome: Trisomy 13 Syndrome, also known as Patau Syndrome, is a rare chromosomal disorder caused by the presence of an extra copy of chromosome 13. Congenital heart defects are commonly seen in individuals with this syndrome, along with other features such as intellectual disability, developmental delays, distinctive facial features, organ malformations, and other systemic abnormalities. Treatment for Trisomy 13 Syndrome is supportive and aims to manage the specific symptoms, provide medical care for associated health issues, and optimize the individual's quality of life. The prognosis is generally poor, and medical decisions are often made in consultation with healthcare professionals and families.

This article is a resource with links to other more specific disorders. Information on each Chromosome 13 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