22q11.2 deletion syndrome

Definition

22q11.2 deletion syndrome is a genetic disorder caused by the deletion of a small segment of chromosome 22, specifically at the 22q11.2 locus. This syndrome is associated with a range of congenital disorders and birth defects, leading to various health issues that can affect multiple organ systems, developmental milestones, and psychosocial functioning throughout a person's life.

5 Must Know Facts For Your Next Test

1. 22q11.2 deletion syndrome is one of the most common chromosomal disorders, occurring in about 1 in 4,000 live births.
2. Individuals with this syndrome may exhibit a wide range of symptoms including heart defects, palate abnormalities, and learning difficulties.
3. The deletion affects over 30 genes, which can disrupt normal development and lead to various physical and mental health challenges.
4. It is often diagnosed using genetic testing methods such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis.
5. Early diagnosis and intervention can significantly improve the outcomes for individuals with 22q11.2 deletion syndrome, making it crucial for parents and healthcare providers to recognize potential signs.

Review Questions

• What are some common physical and developmental symptoms associated with 22q11.2 deletion syndrome?
  • Common symptoms of 22q11.2 deletion syndrome include congenital heart defects such as tetralogy of Fallot, facial features like a cleft palate, and immune system issues due to thymic hypoplasia. Additionally, developmental delays are frequent, manifesting as speech and language difficulties as well as learning disabilities. Recognizing these symptoms early can help in planning appropriate interventions.
• Discuss the genetic mechanism behind 22q11.2 deletion syndrome and how it leads to its clinical manifestations.
  • The condition arises from the deletion of a segment of chromosome 22 at the 22q11.2 locus, resulting in the loss of several important genes involved in normal development and function. The missing genes can disrupt critical pathways during embryonic development, leading to anomalies in the heart, palate, and other organs. The variety of symptoms seen in affected individuals is directly related to which genes are missing and how their absence impacts physiological processes.
• Evaluate the implications of early diagnosis and intervention on the long-term outcomes for individuals with 22q11.2 deletion syndrome.
  • Early diagnosis and intervention are crucial for improving long-term outcomes for individuals with 22q11.2 deletion syndrome. With timely identification of associated health issues like heart defects or learning disabilities, proactive management can be initiated, including surgical interventions or educational support. This approach enhances overall quality of life, enabling affected individuals to achieve better developmental milestones and integrate more effectively into society.

Related terms

DiGeorge Syndrome: A condition within 22q11.2 deletion syndrome characterized by heart defects, immune deficiencies, and cleft palate, among other features.

Chromosomal Microdeletion: A type of genetic mutation where a small piece of chromosome is missing, which can lead to developmental and health issues.

Neurodevelopmental Disorders: A group of disorders that affect the development of the nervous system, often leading to challenges in learning, behavior, and social interactions.