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

• Chromosome 12 Disorders

What are Disorders of Chromosome 12? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 12. 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 12 Disorders are disorders involving chromosome 12. Some of the disorders include:

Chromosome 12p Duplications: Chromosome 12p Duplications refer to a rare genetic condition where there is an extra copy of a portion of the short arm of chromosome 12. While congenital heart defects are not commonly associated with this syndrome, the specific symptoms can vary widely. Common features may include intellectual disability, developmental delays, growth abnormalities, distinctive facial features, and neurological issues. Treatment focuses on managing the individual's specific symptoms and providing supportive care through therapies and interventions tailored to their needs.

Chromosome 12q Deletion Syndrome: Chromosome 12q Deletion Syndrome is a rare genetic disorder caused by the deletion of a portion of the long arm of chromosome 12. This syndrome can be associated with congenital heart defects. Common signs and symptoms may include intellectual disability, developmental delays, distinctive facial features, growth abnormalities, and behavioral challenges. Treatment involves managing the specific symptoms and providing supportive care through therapies and interventions to enhance an individual's quality of life.

Chromosome 12q Duplication Syndrome: Chromosome 12q Duplication Syndrome is a rare genetic condition characterized by an extra copy of a portion of the long arm of chromosome 12. While congenital heart defects are not commonly associated with this syndrome, individuals may experience intellectual disability, developmental delays, distinctive facial features, growth abnormalities, and other variable symptoms. Treatment primarily focuses on managing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

Cantu Syndrome: Cantu Syndrome is an extremely rare genetic disorder characterized by a variety of physical and developmental abnormalities. While congenital heart defects are not commonly reported, individuals with Cantu Syndrome may present with distinctive facial features, skeletal abnormalities, hyperelastic skin, and other systemic manifestations. Treatment is generally supportive and aims to address the specific symptoms and improve the overall quality of life for affected individuals.

Pallister-Killian Syndrome: Pallister-Killian Syndrome is a rare genetic disorder caused by the presence of an extra copy of a specific region of chromosome 12, known as a mosaic tetrasomy. While congenital heart defects are possible in some cases, the syndrome is typically characterized by intellectual disability, developmental delays, distinctive facial features, and other systemic abnormalities. Management involves supportive care, including therapies and interventions to address the individual's specific needs and optimize their overall well-being.

SCN8A Encephalopathy: SCN8A Encephalopathy is a rare genetic disorder caused by mutations in the SCN8A gene. While it primarily affects the central nervous system, congenital heart defects are not typically associated with this condition. SCN8A Encephalopathy is characterized by early-onset seizures, developmental delays, intellectual disability, movement disorders, and other neurological symptoms. Treatment is focused on seizure management, supportive care, and addressing the specific needs of the individual through therapies and interventions.

This article is a resource with links to other more specific disorders. Information on each Chromosome 12 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