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

• Chromosome 3 Disorders

What are Disorders of Chromosome 3? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 3. 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 3 Disorders are disorders involving chromosome 3. Some of the disorders include:

Chromosome 3p Duplication Syndrome: Chromosome 3p Duplication Syndrome is a rare genetic disorder characterized by the presence of extra genetic material on the short arm of chromosome 3. It can result in developmental delays, intellectual disability, speech and language difficulties, behavioral challenges, physical abnormalities, and other health issues. Treatment typically involves early intervention programs, therapies to address developmental delays, and supportive care to manage associated symptoms.

Chromosome 3p Deletion Syndrome: Chromosome 3p Deletion Syndrome is a genetic disorder caused by the deletion of genetic material on the short arm of chromosome 3. It can lead to a range of symptoms including developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, characteristic facial features, and other medical issues. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions.

Chromosome 3q Duplication Syndrome: Chromosome 3q Duplication Syndrome involves the presence of extra genetic material on the long arm of chromosome 3. This condition can result in developmental delays, intellectual disability, speech and language delays, 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 3q Deletion Syndrome: Chromosome 3q Deletion Syndrome is a genetic disorder characterized by the deletion of genetic material on the long arm of chromosome 3. It can cause developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, and other medical conditions. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions.

Chromosome 3p25 Deletion Syndrome: Chromosome 3p25 Deletion Syndrome is a rare genetic disorder caused by the deletion of genetic material on the short arm of chromosome 3, specifically at the 3p25 region. It can result in developmental delays, intellectual disability, distinctive facial features, growth abnormalities, and other medical issues. Treatment involves early intervention programs, therapies to address developmental delays, and supportive care tailored to the individual's needs.

Chromosome 3p26 Deletion Syndrome: Chromosome 3p26 Deletion Syndrome is a genetic disorder characterized by the deletion of genetic material on the short arm of chromosome 3, specifically at the 3p26 region. It can lead to developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, and other medical conditions. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions.

Chromosome 3q13 Deletions and Microdeletions: Chromosome 3q13 Deletions and Microdeletions refer to genetic disorders involving the deletion of genetic material on the long arm of chromosome 3, specifically within the 3q13 region. These deletions can result in various developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, and other health problems. Treatment typically involves managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions.

Chromosome 3q29 Deletions and Microdeletions Syndrome: Chromosome 3q29 Deletions and Microdeletions Syndrome is a rare genetic disorder characterized by the deletion or loss of genetic material on the long arm of chromosome 3, specifically at the 3q29 region. It can lead to a range of symptoms including developmental delays, intellectual disability, speech and language difficulties, behavioral challenges, and physical abnormalities. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions.

Chromosome 3q29 Duplications and Microduplications Syndrome: Chromosome 3q29 Duplications and Microduplications Syndrome involves the presence of extra genetic material on the long arm of chromosome 3, specifically at the 3q29 region. This condition can result in developmental delays, intellectual disability, speech and language delays, 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.

Ring Chromosome 3 Syndrome: Ring Chromosome 3 Syndrome is a rare genetic disorder characterized by the presence of a ring-shaped chromosome 3. It can result in various symptoms and developmental challenges. The specific features and severity of the syndrome can vary widely among affected individuals. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions.

CTNNB1 Syndrome: CTNNB1 Syndrome is a rare genetic disorder caused by mutations in the CTNNB1 gene. It is associated with intellectual disability, developmental delays, speech and language difficulties, behavioral challenges, and physical abnormalities. Treatment involves early intervention programs, therapies to address developmental delays, and supportive care tailored to the individual's needs.

SETD5 Syndrome: SETD5 Syndrome is a genetic disorder caused by mutations in the SETD5 gene. It is characterized by intellectual disability, developmental delays, speech and language difficulties, and distinctive facial features. Treatment typically involves early intervention programs, therapies to address developmental delays, and supportive care tailored to the individual's needs.

ADCY5-Related Dyskinesia: ADCY5-Related Dyskinesia is a genetic disorder caused by mutations in the ADCY5 gene. It is characterized by involuntary movements and muscle stiffness or weakness. Treatment may involve medications to manage the symptoms and supportive care to address specific needs. Physical therapy and other therapies may also be helpful in managing the movement difficulties associated with the condition.

This article is a resource with links to other more specific disorders. Information on each Chromosome 3 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