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

• Chromosome 17 Disorders

What are Disorders of Chromosome 17? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 17. 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 17 Disorders are disorders involving chromosome 17. Some of the disorders include:

Chromosome 17p Duplication Syndrome: Chromosome 17p Duplication Syndrome is a genetic condition characterized by an extra copy of genetic material on the short arm of chromosome 17. It can lead to various physical and developmental challenges. However, specific information regarding congenital heart defects associated with this syndrome is limited. Signs and symptoms may include intellectual disability, developmental delays, behavioral issues, and distinct facial features. Treatment involves managing the specific symptoms and providing support for developmental and educational needs.

Chromosome 17p13.1 and 17p13.2 Microdeletion Syndrome: Chromosome 17p13.1 and 17p13.2 Microdeletion Syndrome is a genetic disorder caused by the loss of genetic material on the short arm of chromosome 17 at regions 17p13.1 and 17p13.2. It can result in a range of health issues, but information specifically regarding congenital heart defects associated with this syndrome is limited. Common signs and symptoms may include intellectual disability, developmental delays, feeding difficulties, growth problems, and distinctive facial features. Treatment involves addressing the specific symptoms and providing supportive care to manage developmental, educational, and medical needs.

Chromosome 17p13.3 Microdeletion Syndrome: Chromosome 17p13.3 Microdeletion Syndrome is a genetic condition caused by the deletion of genetic material on the short arm of chromosome 17 at region 17p13.3. Although not all cases are associated with heart defects, individuals with this syndrome may have an increased risk of congenital heart abnormalities. Other common symptoms may include intellectual disability, developmental delays, behavioral issues, and characteristic facial features. Treatment focuses on managing the specific symptoms and providing support for developmental and educational needs.

Chromosome 17q12 Microdeletion Syndrome: Chromosome 17q12 Microdeletion Syndrome is a genetic disorder caused by the loss of genetic material on the long arm of chromosome 17 at region 17q12. It can be associated with various health issues, including congenital heart defects. Common signs and symptoms may include intellectual disability, developmental delays, kidney abnormalities, and distinct facial features. Treatment involves addressing the specific symptoms and providing supportive care to manage developmental, educational, and medical needs, including the management of any heart-related concerns.

Chromosome 17q12 Microduplication Syndrome: Chromosome 17q12 Microduplication Syndrome is a genetic condition characterized by the presence of an additional copy of genetic material on the long arm of chromosome 17 at region 17q12. It can result in various health issues, but the specific association with congenital heart defects is unclear. Common signs and symptoms may include developmental delays, intellectual disability, kidney abnormalities, and distinctive facial features. Treatment focuses on managing the specific symptoms and providing supportive care for developmental and educational needs.

Trisomy 17 Mosaicism: Trisomy 17 Mosaicism is a chromosomal abnormality in which some cells in the body have an extra copy of chromosome 17. The presence of a trisomy 17 mosaic pattern can result in a wide range of physical and developmental challenges, but a direct link with congenital heart defects is not well established. Symptoms can vary greatly between individuals. Treatment is based on managing the specific symptoms and providing support tailored to the individual's needs.

Koolen-De Vries Syndrome: Koolen-De Vries Syndrome is a genetic disorder caused by a deletion or mutation in the KANSL1 gene on chromosome 17. Although congenital heart defects are not a defining feature of this syndrome, they have been reported in some individuals. Common symptoms may include intellectual disability, developmental delays, feeding difficulties, and distinct facial features. Treatment involves addressing the specific symptoms and providing support for developmental, educational, and medical needs.

SYNGAP1-Related Non-Syndromic Intellectual Disability: SYNGAP1-Related Non-Syndromic Intellectual Disability is a genetic condition caused by mutations in the SYNGAP1 gene. While it is primarily characterized by intellectual disability, individuals with SYNGAP1 mutations may have an increased risk of congenital heart defects. Treatment focuses on managing intellectual and developmental challenges and providing supportive care tailored to the individual's needs.

ACE Insertion/Deletion Polymorphism: ACE Insertion/Deletion Polymorphism refers to a genetic variation in the ACE gene that can affect the levels of angiotensin-converting enzyme in the body. While this polymorphism has been studied in relation to cardiovascular health, including hypertension and other heart-related conditions, its direct association with congenital heart defects is not well established. Further research is needed to understand the potential implications of this polymorphism on heart development.

This article is a resource with links to other more specific disorders. Information on each Chromosome 17 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