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

• Chromosome 14 Disorders

What are Disorders of Chromosome 14? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 14. 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 14 Disorders are disorders involving chromosome 14. Some of the disorders include:

Chromosome 14q Deletions Between 14q22 and 14q32: Chromosome 14q Deletions between 14q22 and 14q32 refer to a range of rare genetic disorders characterized by the deletion of genetic material in the long arm of chromosome 14, specifically between the 14q22 and 14q32 regions. The specific symptoms and manifestations of these deletions can vary widely. However, congenital heart defects can be associated with these syndromes, along with other features such as intellectual disability, developmental delays, distinctive facial features, growth abnormalities, and other systemic issues. Treatment involves managing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

Chromosome 14q Deletions From 14q31 and 14q32: Chromosome 14q Deletions from 14q31 and 14q32 refer to a range of genetic disorders characterized by the deletion of genetic material in the long arm of chromosome 14, specifically from the 14q31 to 14q32 region. While the specific symptoms and manifestations of these deletions can vary, congenital heart defects may be present in individuals affected by these syndromes. Other common features may include intellectual disability, developmental delays, distinctive facial features, growth abnormalities, and other systemic issues. Treatment focuses on managing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

Chromosome 14q Deletions From 14q32.2 and 14q32.3: Chromosome 14q Deletions from 14q32.2 and 14q32.3 refer to a specific subset of genetic disorders characterized by the deletion of genetic material in the long arm of chromosome 14, specifically from the 14q32.2 to 14q32.3 region. While congenital heart defects are not commonly associated with these syndromes, 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.

Chromosome 14q Deletion Syndrome: Chromosome 14q Deletion Syndrome is a rare genetic disorder caused by the deletion of a portion of the long arm of chromosome 14. 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 other systemic issues. Treatment focuses on managing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

Ring Chromosome 14 Syndrome: Ring Chromosome 14 Syndrome is a rare chromosomal disorder where the genetic material of chromosome 14 forms a ring structure. While congenital heart defects can occur in individuals with this syndrome, symptoms may vary widely. Common features include intellectual disability, developmental delays, distinctive facial features, growth abnormalities, and other systemic issues. Treatment involves managing the specific symptoms and providing supportive care through therapies and interventions to optimize the individual's overall well-being.

Mosaic Trisomy 14 Syndrome: Mosaic Trisomy 14 Syndrome is a rare genetic condition characterized by the presence of an extra copy of chromosome 14 in some cells of the body. Congenital heart defects can be associated with this syndrome. Symptoms may vary widely, but commonly include intellectual disability, developmental delays, distinctive facial features, growth abnormalities, and other systemic issues. Treatment focuses on managing the specific symptoms and providing supportive care through therapies and interventions tailored to the individual's needs.

FOXG1 Syndrome: FOXG1 Syndrome is a rare genetic disorder caused by mutations in the FOXG1 gene. Congenital heart defects are not typically associated with this syndrome. Individuals with FOXG1 Syndrome may experience intellectual disability, severe developmental delays, motor impairments, seizures, distinctive facial features, and other neurological issues. Treatment involves managing the specific symptoms, providing supportive care, and implementing therapies and interventions to address the developmental and medical needs of the individual.

This article is a resource with links to other more specific disorders. Information on each Chromosome 14 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