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

• Chromosome 10 Disorders

What are Disorders of Chromosome 10? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 10. 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 10 Disorders are disorders involving chromosome 10. Some of the disorders include:

Chromosome 10p Deletion Syndrome: Chromosome 10p Deletion Syndrome is a rare genetic disorder where a portion of the short arm of chromosome 10 is missing. This syndrome can cause various health issues, including congenital heart defects. Common signs and symptoms may include intellectual disability, delayed development, distinctive facial features, and growth problems. Treatment for chromosome 10p deletion syndrome involves managing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

Chromosome 10p Duplication Syndrome: Chromosome 10p Duplication Syndrome is a rare genetic condition characterized by the presence of an extra copy of a portion of the short arm of chromosome 10. Congenital heart defects can be associated with this syndrome. Individuals with this condition may experience developmental delays, intellectual disability, speech and language difficulties, and distinctive physical features. The treatment approach focuses on managing the specific symptoms and providing supportive care through therapies and interventions to optimize an individual's quality of life.

Chromosome 10q Deletion Syndrome: Chromosome 10q Deletion Syndrome is a rare genetic disorder where a portion of the long arm of chromosome 10 is missing. Congenital heart defects can be present in individuals with this syndrome. Common signs and symptoms may include intellectual disability, developmental delays, speech and language difficulties, distinctive facial features, and behavioral challenges. Treatment for chromosome 10q deletion syndrome involves addressing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

Chromosome 10q Duplication Syndrome: Chromosome 10q Duplication Syndrome is a rare genetic disorder characterized by the presence of an extra copy of a portion of the long arm of chromosome 10. Congenital heart defects can occur in individuals with this syndrome. Common symptoms may include developmental delays, intellectual disability, speech and language difficulties, distinctive facial features, and behavioral issues. Treatment focuses on managing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

Ring Chromosome 10 Syndrome: Ring Chromosome 10 Syndrome is a rare genetic condition where there is a structural abnormality in chromosome 10, resulting in the formation of a ring-shaped chromosome. This syndrome can be associated with congenital heart defects. Symptoms may vary widely, but commonly include intellectual disability, growth delays, distinctive facial features, and developmental delays. Treatment primarily involves managing the specific symptoms and providing supportive care through therapies and interventions to enhance an individual's quality of life.

KIF11 Associated Disorder: KIF11 Associated Disorder is a rare genetic condition caused by mutations in the KIF11 gene. While not directly associated with congenital heart defects, this disorder can present with cardiovascular abnormalities, including aortic dilation or dissection. Other common features may include intellectual disability, developmental delays, vision problems, skeletal abnormalities, and distinctive facial features. The management of KIF11 Associated Disorder involves multidisciplinary care, addressing the specific symptoms, and providing supportive therapies and interventions to optimize the individual's overall well-being. Regular monitoring of cardiovascular health is essential in individuals affected by this disorder.

This article is a resource with links to other more specific disorders. Information on each Chromosome 10 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