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

• Chromosome 7 Disorders

What are Disorders of Chromosome 7? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 7. 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 7 Disorders are disorders involving chromosome 7. Some of the disorders include:

Chromosome 7q Deletion Syndrome: Chromosome 7q Deletion Syndrome is a genetic disorder characterized by the deletion of genetic material on the long arm of chromosome 7. 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 7q Duplication Syndrome: Chromosome 7q Duplication Syndrome involves the presence of extra genetic material on the long arm of chromosome 7. 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 7q11.23 Duplication Syndrome: Chromosome 7q11.23 Duplication Syndrome is a genetic disorder characterized by the duplication of genetic material on the long arm of chromosome 7 at the 7q11.23 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 7q21.11 Microdeletion Syndrome: Chromosome 7q21.11 Microdeletion Syndrome refers to a genetic disorder caused by the microdeletion of genetic material on the long arm of chromosome 7, specifically at the 7q21.11 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. Genetic counseling may also be beneficial for affected individuals and their families.

Chromosome 7p Duplication Syndrome: Chromosome 7p Duplication Syndrome is a genetic disorder characterized by the presence of extra genetic material on the short arm of chromosome 7. This condition can lead to 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 7p Deletion Syndrome: Chromosome 7p Deletion Syndrome refers to a genetic disorder caused by the deletion of genetic material on the short arm of chromosome 7. It can result in 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.

FOXP2 Syndrome: FOXP2 Syndrome is a rare genetic disorder caused by mutations in the FOXP2 gene. It is associated with speech and language difficulties, including verbal apraxia and language impairments. Individuals with FOXP2 Syndrome may also exhibit developmental delays, intellectual disability, and other neurological and behavioral features. Treatment typically involves speech and language therapy, early intervention programs, and supportive care to address the specific communication and developmental needs of the individual.

Pallister-Hall Syndrome: Pallister-Hall Syndrome is a rare genetic disorder caused by mutations in the GLI3 gene. It is characterized by a wide range of symptoms, including malformations of the hands and feet, extra fingers or toes (polydactyly), abnormal growths in the hypothalamus (hypothalamic hamartomas), and other congenital abnormalities. Treatment focuses on managing symptoms, providing supportive care, and addressing specific health concerns through appropriate interventions and surgeries as necessary. Genetic counseling is also important for affected individuals and their families to understand the inheritance pattern and potential risks.

This article is a resource with links to other more specific disorders. Information on each Chromosome 7 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