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

• Chromosome 16 Disorders

What are Disorders of Chromosome 16? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 16. 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 16 Disorders are disorders involving chromosome 16. Some of the disorders include:

Chromosome 16p Duplication Syndrome: Chromosome 16p Duplication Syndrome is a genetic disorder caused by an extra copy of genetic material on the short arm of chromosome 16. It can lead to various physical and developmental challenges, including congenital heart defects. Signs and symptoms may vary but can include intellectual disability, delayed speech and language skills, behavioral issues, and distinctive facial features. Treatment focuses on managing the specific symptoms and providing support for developmental and educational needs.

Chromosome 16p Deletion Syndrome: Chromosome 16p Deletion Syndrome is a genetic condition characterized by the loss of genetic material on the short arm of chromosome 16. It can result in a range of health issues, including congenital heart defects. Common signs and symptoms may include developmental delays, intellectual disability, feeding difficulties, growth problems, and distinct facial features. Treatment involves addressing the specific symptoms and providing supportive care to manage developmental, educational, and medical needs.

Chromosome 16p11.2 Deletion Syndrome: Chromosome 16p11.2 Deletion Syndrome is a genetic disorder caused by the deletion of a specific region on the long arm of chromosome 16. This syndrome is associated with a higher risk of congenital heart defects. Individuals with this condition may also experience developmental delays, intellectual disability, speech and language difficulties, and behavioral challenges. Treatment involves a multidisciplinary approach to address the various symptoms and provide support for developmental, educational, and medical needs.

Chromosome 16p11.2 Duplication Syndrome: Chromosome 16p11.2 Duplication Syndrome is a genetic disorder characterized by the duplication of a specific region on the long arm of chromosome 16. It can result in congenital heart defects as well as other physical and developmental challenges. Common symptoms may include intellectual disability, speech and language delays, behavioral problems, and distinctive facial features. Treatment focuses on managing the specific symptoms and providing support for developmental and educational needs.

Chromosome 16p12.2 Deletion Syndrome: Chromosome 16p12.2 Deletion Syndrome is a genetic condition caused by the loss of genetic material on the long arm of chromosome 16. It can be associated with congenital heart defects among other possible health issues. Common signs and symptoms may include developmental delays, intellectual disability, growth problems, feeding difficulties, and distinctive facial features. Treatment involves addressing the specific symptoms and providing supportive care to manage developmental, educational, and medical needs.

Ring Chromosome 16 Syndrome: Ring Chromosome 16 Syndrome is a rare genetic disorder characterized by a ring-shaped chromosome 16. It can lead to various health problems, including congenital heart defects. Common signs and symptoms may include developmental delays, intellectual disability, growth and feeding difficulties, distinctive facial features, and skeletal abnormalities. Treatment involves managing the specific symptoms and providing supportive care to address developmental, educational, and medical needs.

Chromosome 16p13.3 Duplication Syndrome: Chromosome 16p13.3 Duplication Syndrome is a genetic condition caused by the duplication of a specific region on the short arm of chromosome 16. It can be associated with congenital heart defects and other physical and developmental challenges. Symptoms may vary but can include intellectual disability, speech and language delays, behavioral issues, and facial dysmorphism. Treatment focuses on managing the specific symptoms and providing support for developmental and educational needs.

Chromosome 16q Deletion Syndrome: Chromosome 16q Deletion Syndrome is a genetic disorder caused by the loss of genetic material on the long arm of chromosome 16. It can result in a variety of health issues, including congenital heart defects. Common signs and symptoms may include intellectual disability, developmental delays, facial dysmorphism, and growth problems. Treatment involves addressing the specific symptoms and providing supportive care to manage developmental, educational, and medical needs.

ANKRD11 and KBG Syndrome: ANKRD11 and KBG Syndrome is a genetic disorder caused by mutations in the ANKRD11 gene. It is characterized by developmental delays, intellectual disability, and distinctive facial features. Although heart defects are not commonly associated with this syndrome, individuals with ANKRD11 and KBG Syndrome may still have an increased risk of heart abnormalities. Treatment focuses on managing the developmental and intellectual challenges and providing supportive care tailored to the individual's needs.

Floating Harbor Syndrome (FHS): Floating Harbor Syndrome (FHS) is a rare genetic disorder characterized by delayed growth, intellectual disability, and distinctive facial features. While congenital heart defects are not typically associated with FHS, it is essential to evaluate each individual case, as heart abnormalities have been reported in some patients. Treatment aims to address the specific signs and symptoms and provide support for developmental, educational, and medical needs.

This article is a resource with links to other more specific disorders. Information on each Chromosome 16 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