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

• Chromosome 8 Disorders

What are Disorders of Chromosome 8? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 8. 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 8 Disorders are disorders involving chromosome 8. Some of the disorders include:

Chromosome 8q Deletion Syndrome: Chromosome 8q Deletion Syndrome is a genetic disorder characterized by the deletion of genetic material on the long arm of chromosome 8. This deletion can lead to a variety of symptoms and developmental challenges, including intellectual disability, developmental delays, speech and language difficulties, growth abnormalities, distinctive facial features, and other medical conditions. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

Chromosome 8p Duplication Syndrome: Chromosome 8p Duplication Syndrome involves the presence of extra genetic material on the short arm of chromosome 8. This condition can result in developmental delays, intellectual disability, speech and language difficulties, behavioral challenges, physical abnormalities, and various health problems. Treatment typically involves early intervention programs, therapies to address developmental delays, and supportive care to manage associated symptoms.

Chromosome 8p Deletion Syndrome: Chromosome 8p Deletion Syndrome refers to a genetic disorder caused by the deletion of genetic material on the short arm of chromosome 8. It can lead to a range of symptoms, including developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, distinctive facial features, and other medical conditions. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

Ring Chromosome 8 Syndrome: Ring Chromosome 8 Syndrome is a rare chromosomal disorder characterized by the presence of a ring-shaped chromosome 8. It can result in a range of symptoms and developmental challenges. The specific features and severity of the syndrome can vary among affected individuals. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

Chromosome 8p23 Deletion Syndrome: Chromosome 8p23 Deletion Syndrome is a genetic disorder caused by the deletion of genetic material on the short arm of chromosome 8 at the 8p23 region. This syndrome is associated with developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, distinctive facial features, and other medical conditions. Treatment involves managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements. Genetic counseling may also be beneficial for affected individuals and their families.

Chromosome 8p23.1 Duplication Syndrome: Chromosome 8p23.1 Duplication Syndrome is a genetic disorder characterized by the duplication of genetic material on the short arm of chromosome 8 at the 8p23.1 region. This duplication can lead to developmental delays, intellectual disability, speech and language difficulties, behavioral challenges, physical abnormalities, and other medical conditions. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

Chromosome 8q Duplication Syndrome: Chromosome 8q Duplication Syndrome involves the presence of extra genetic material on the long arm of chromosome 8. This condition can result in developmental delays, intellectual disability, speech and language difficulties, behavioral challenges, physical abnormalities, and various health problems. Treatment typically involves early intervention programs, therapies to address developmental delays, and supportive care to manage associated symptoms.

KAT6A Syndrome: KAT6A Syndrome is a rare genetic disorder caused by mutations or deletions in the KAT6A gene. It is associated with developmental delays, intellectual disability, speech and language difficulties, physical abnormalities, and other medical features. Individuals with KAT6A Syndrome may also experience behavioral challenges, seizures, and other health issues. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapies, interventions, and supportive services tailored to the individual's requirements.

Verheij Syndrome: Verheij Syndrome, also known as Chromosome 8p21.2-p23.1 Deletion Syndrome, is a genetic disorder caused by the deletion of genetic material on the short arm of chromosome 8, specifically within the 8p21.2-p23.1 region. It can result in developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, distinctive facial features, and other medical conditions. Treatment involves managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

Trisomy 8 Mosaicism: Trisomy 8 Mosaicism is a chromosomal disorder characterized by the presence of an extra copy of chromosome 8 in some cells of the body. This mosaic pattern of cells with trisomy 8 can lead to a variety of symptoms and developmental challenges, including intellectual disability, developmental delays, growth abnormalities, distinctive facial features, and other medical conditions. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements. Genetic counseling is also important to understand the implications and potential risks associated with trisomy 8 mosaicism.

This article is a resource with links to other more specific disorders. Information on each Chromosome 8 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