DiGeorge Syndrome

Definition

DiGeorge Syndrome is a genetic disorder caused by a deletion of a small segment of chromosome 22, leading to a range of developmental and physical abnormalities. This syndrome is characterized by congenital heart defects, immune deficiencies, and problems with the parathyroid glands, among other issues, all stemming from chromosomal aberrations that disrupt normal development and function.

5 Must Know Facts For Your Next Test

1. DiGeorge Syndrome is one of the most common microdeletion syndromes, occurring in approximately 1 in 4,000 births.
2. The deletion on chromosome 22 can affect the development of multiple systems in the body, leading to symptoms that vary widely among individuals.
3. Common features of DiGeorge Syndrome include facial dysmorphism, such as a long face and low-set ears, in addition to heart defects and immune deficiencies.
4. Individuals with this syndrome often experience developmental delays and learning disabilities due to the impact on neural development.
5. The diagnosis of DiGeorge Syndrome can be confirmed through genetic testing, specifically looking for the 22q11.2 deletion.

Review Questions

• How does the chromosomal deletion in DiGeorge Syndrome affect physical development?
  • The chromosomal deletion in DiGeorge Syndrome specifically impacts the development of several critical structures in the body, including the heart and thymus gland. This results in congenital heart defects and immune system issues due to underdeveloped or absent thymus tissue. As a result, affected individuals may struggle with both physical health challenges and overall growth due to these developmental disruptions.
• Discuss the implications of immune deficiency associated with DiGeorge Syndrome and its potential effects on health.
  • The immune deficiency in DiGeorge Syndrome arises from an underdeveloped thymus gland, which affects T-cell production and leads to a compromised immune system. This makes individuals more susceptible to infections and other illnesses. As a result, they may require careful medical management and preventive measures to protect against infections, highlighting the importance of early diagnosis and intervention in managing this syndrome's health implications.
• Evaluate how understanding DiGeorge Syndrome contributes to advancements in genetic medicine and patient care.
  • Understanding DiGeorge Syndrome has led to significant advancements in genetic medicine by providing insights into the role of specific genes involved in developmental processes. This knowledge aids in early diagnosis through genetic testing and fosters better patient care through tailored treatment plans addressing both physical and developmental challenges. Furthermore, ongoing research into the mechanisms behind chromosomal deletions enhances our comprehension of various genetic disorders, paving the way for innovative therapeutic approaches and interventions.

Related terms

Chromosomal Deletion: A type of chromosomal aberration where a segment of the chromosome is missing or deleted, which can lead to various genetic disorders.

22q11.2 Deletion Syndrome: Another name for DiGeorge Syndrome, emphasizing the specific location of the chromosomal deletion on chromosome 22.

Congenital Heart Defect: A structural problem with the heart that is present at birth, often associated with genetic conditions like DiGeorge Syndrome.