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 location. This condition leads to a variety of developmental, psychological, and physical health issues due to the loss of critical genes in that region, making it an important example of chromosomal aberrations.

5 Must Know Facts For Your Next Test

1. 22q11.2 deletion syndrome affects approximately 1 in 4,000 live births, making it one of the most common genetic disorders.
2. Individuals with this syndrome often present with a range of symptoms, including heart defects, learning difficulties, and increased risk for psychiatric disorders.
3. The deletion can be identified through genetic testing methods such as FISH (Fluorescence In Situ Hybridization) or microarray analysis.
4. This condition is highly variable; not every individual will exhibit all symptoms or to the same degree, which complicates diagnosis and management.
5. Early intervention and multidisciplinary care can significantly improve outcomes for affected individuals, highlighting the importance of awareness and diagnosis.

Review Questions

• How does 22q11.2 deletion syndrome illustrate the impact of chromosomal aberrations on human health?
  • 22q11.2 deletion syndrome exemplifies how chromosomal aberrations can lead to significant health challenges. The deletion of genes at the 22q11.2 locus disrupts normal development and functioning, resulting in various physical and psychological symptoms. This case shows that even small changes in chromosomal structure can have profound effects on an individual's overall health and development.
• Discuss the role of genetic testing in diagnosing 22q11.2 deletion syndrome and its importance in managing the condition.
  • Genetic testing plays a crucial role in diagnosing 22q11.2 deletion syndrome by identifying the specific chromosomal deletion responsible for the symptoms. Methods like FISH or microarray analysis can confirm the diagnosis, enabling healthcare providers to develop personalized management plans. Early detection through genetic testing is vital as it allows for timely interventions that can improve developmental outcomes and quality of life for those affected.
• Evaluate the psychosocial implications for individuals with 22q11.2 deletion syndrome and their families.
  • The psychosocial implications of 22q11.2 deletion syndrome can be profound for both individuals and their families. Affected individuals may face challenges such as learning disabilities and higher susceptibility to mental health disorders, which can impact self-esteem and social interactions. For families, the emotional burden includes navigating complex healthcare needs and potentially facing stigma. Support systems and resources are essential to help both individuals and families cope with these challenges effectively.

Related terms

Chromosomal Aberration: A structural alteration in chromosomes, which can involve deletions, duplications, inversions, or translocations of chromosomal segments.

Microdeletion Syndrome: A type of genetic disorder that results from a small deletion of a chromosomal segment, often leading to distinct clinical features and developmental challenges.

DiGeorge Syndrome: A specific manifestation of 22q11.2 deletion syndrome characterized by congenital heart defects, immune deficiencies, and hypoparathyroidism.