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

• Chromosome 11 Disorders

What are Disorders of Chromosome 11? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 11. 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 11 Disorders are disorders involving chromosome 11. Some of the disorders include:

Chromosome 11q Duplication: Chromosome 11q Duplication is a rare genetic condition characterized by an extra copy of a portion of the long arm of chromosome 11. Congenital heart defects can be associated with this syndrome. Common signs and symptoms may include intellectual disability, developmental delays, distinctive facial features, and growth abnormalities. Treatment focuses on managing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

Jacobsen Syndrome: Jacobsen Syndrome is a rare chromosomal disorder caused by a deletion in the long arm of chromosome 11. Congenital heart defects are commonly seen in individuals with this syndrome. Other common features may include intellectual disability, developmental delays, distinctive facial features, short stature, and blood disorders. Treatment typically involves addressing the specific symptoms and providing supportive care through various therapies and interventions to support an individual's development and well-being.

Trisomy 11 Mosaicism: Trisomy 11 Mosaicism is a chromosomal disorder where there is an extra copy of chromosome 11 in some cells of the body. Congenital heart defects can occur in individuals with this condition. Symptoms may vary widely but commonly include developmental delays, intellectual disability, growth abnormalities, and distinctive facial features. Treatment focuses on managing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

WAGR Syndrome: WAGR Syndrome is a rare genetic disorder characterized by the deletion of multiple genes on chromosome 11. Although primarily associated with genitourinary and kidney abnormalities, individuals with WAGR Syndrome can also experience congenital heart defects. Other common features of the syndrome include intellectual disability, eye abnormalities (such as aniridia), growth abnormalities, and an increased risk of developing certain types of tumors. Treatment involves managing specific signs and symptoms and providing multidisciplinary care to address the medical, developmental, and emotional needs of the individual. Regular monitoring for potential health complications is important for individuals with WAGR Syndrome.

This article is a resource with links to other more specific disorders. Information on each Chromosome 11 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