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

• Chromosome 6 Disorders

What are Disorders of Chromosome 6? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 6. 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 6 Disorders are disorders involving chromosome 6. Some of the disorders include:

Chromosome 6p Deletion Syndrome: Chromosome 6p Deletion Syndrome is a genetic disorder characterized by the deletion of genetic material on the short arm of chromosome 6. 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 issues. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

Chromosome 6q Deletions 6q11 to 6q16: Chromosome 6q Deletions 6q11 to 6q16 refer to genetic disorders involving the deletion of genetic material on the long arm of chromosome 6, specifically within the region between 6q11 and 6q16. 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 6q Deletions 6q13 to 6q14: Chromosome 6q Deletions 6q13 to 6q14 is a genetic disorder characterized by the deletion of genetic material on the long arm of chromosome 6 within the specific region between 6q13 and 6q14. This deletion can result in a variety of developmental challenges and health issues. Individuals with this condition may experience developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, distinctive facial features, and other medical concerns. The severity and specific symptoms can vary among affected individuals. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapies, interventions, and supportive services tailored to the individual's requirements.

Chromosome 6q Deletions 6q15 to 6q23: Chromosome 6q Deletions 6q15 to 6q23 is a genetic disorder characterized by the deletion of genetic material on the long arm of chromosome 6 within the specific region between 6q15 and 6q23. This deletion can lead to a range of developmental challenges and medical conditions. Individuals with this condition may experience developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, and other health issues. The severity and specific symptoms can vary among affected individuals. Treatment aims to manage symptoms, provide supportive care, and address specific needs through therapies, interventions, and supportive services based on the individual's requirements. Consulting with healthcare professionals or genetic specialists is recommended to develop a tailored treatment plan for each affected individual.

Chromosome 6q Deletions 6q23 to 6q24: Chromosome 6q Deletions 6q23 to 6q24 is a genetic disorder characterized by the deletion of genetic material on the long arm of chromosome 6 within the specific region between 6q23 and 6q24. This deletion can lead to various developmental challenges and health issues. Individuals with this condition may experience developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, distinctive facial features, and other medical concerns. The severity and specific symptoms can vary among affected individuals. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapies, interventions, and supportive services tailored to the individual's requirements.

Chromosome 6q25 Microdeletion Syndrome: Chromosome 6q25 Microdeletion Syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material on the long arm of chromosome 6 at the 6q25 region. This syndrome is characterized by a range of symptoms including developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, distinctive facial features, and other medical conditions. Treatment is usually tailored to manage the symptoms and provide supportive care, including therapies and interventions specific to the individual's needs.

Chromosome 6q Deletions from 6q26 and 6q27: Chromosome 6q Deletions from 6q26 and 6q27 refer to genetic disorders involving the deletion of genetic material on the long arm of chromosome 6, specifically starting from the 6q26 region and extending beyond to the 6q27 region. These deletions can lead to developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, distinctive facial features, and other medical conditions. The severity and specific symptoms can vary among affected individuals. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapies, interventions, and supportive services tailored to the individual's requirements.

ARID1B Syndrome: ARID1B Syndrome is a genetic disorder caused by mutations or deletions in the ARID1B gene located on chromosome 6q25. This syndrome is associated with developmental delays, intellectual disability, speech and language difficulties, autism spectrum disorder, and other health issues. The specific symptoms and their severity can vary among affected individuals. Treatment involves managing symptoms, providing supportive care, and addressing specific needs through therapies, interventions, and supportive services tailored to the individual's requirements. Genetic counseling may also be beneficial for affected individuals and their families.

Chromosome 6q Deletion Syndrome: Chromosome 6q Deletion Syndrome is a genetic disorder characterized by the deletion of genetic material on the long arm of chromosome 6. This deletion can lead to a range of symptoms and developmental challenges, including 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.

Chromosome 6p Duplication Syndrome: Chromosome 6p Duplication Syndrome involves the presence of extra genetic material on the short arm of chromosome 6. 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 6q Duplication Syndrome: Chromosome 6q Duplication Syndrome is a rare genetic disorder characterized by the duplication of genetic material on the long arm of chromosome 6. It can lead to developmental delays, intellectual disability, speech and language difficulties, behavioral challenges, physical abnormalities, and various health problems. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

SYNGAP1 Syndrome: SYNGAP1 Syndrome is a genetic disorder caused by mutations or deletions in the SYNGAP1 gene. It is associated with intellectual disability, developmental delays, epilepsy, autism spectrum disorder, and other neurological and behavioral issues. Treatment may involve a combination of therapies, including speech and occupational therapy, medications to manage seizures and other symptoms, and behavioral interventions. The specific treatment plan is tailored to the individual's needs and may require a multidisciplinary approach involving various healthcare professionals. Genetic counseling may also be beneficial for affected individuals and their families.

This article is a resource with links to other more specific disorders. Information on each Chromosome 6 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