DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. This deletion leads to a wide range of physical and developmental problems.
DiGeorge syndrome (22q11.2 deletion syndrome) can affect anyone since 90% of cases occur as a result of a random deletion on chromosome 22. This happens when the egg and sperm meet in the early stages of fetal development. The rate of occurrence is unpredictable. This condition isn’t caused by something the parents did before or during pregnancy.
In 10% of cases, some people can inherit 22q11.2 deletion syndrome from one parent who has the condition (autosomal dominant). Only one copy of the chromosome from one parent is necessary for the child to inherit the condition.
DiGeorge syndrome isn’t common. About 1 in 4,000 people in the U.S. receive a 22q11.2 deletion syndrome diagnosis annually.
There are three main types of DiGeorge Syndrome: Classic, Atypical, and Chromosome 22q11.2 Duplication Syndrome.
Classic DiGeorge Syndrome is characterized by the typical deletion on chromosome 22, while atypical cases may involve larger or smaller deletions.
• Cardiac Abnormalities:Heart defects are common, ranging from mild to severe.
• Immune System Issues: Weakened immune system, making individuals susceptible to infections.
• Facial Features: Characteristic facial abnormalities, such as a cleft palate or subtle facial differences.
• Developmental Delays: Delays in speech and motor skills.
• Learning Disabilities: Difficulties in learning and intellectual development.
DiGeorge Syndrome is primarily caused by a deletion on chromosome 22.
This genetic abnormality occurs spontaneously in most cases, though it can be inherited from a parent with the deletion.
Risk Factors –
• Advanced parental age increases the risk of having a child with DiGeorge Syndrome.
• If one parent carries the chromosomal deletion, the risk of passing it on to their child is increased.
• Cardiac Complications: Serious heart defects may require surgical intervention.
• Infections: Weakened immune system can lead to recurrent infections.
• Behavioral and Psychiatric Issues: Increased risk of mental health challenges, including attention deficit hyperactivity disorder (ADHD) and schizophrenia.
• Genetic Testing: Chromosomal microarray or FISH (fluorescence in situ hybridization) can identify the 22q11.2 deletion.
• Physical Examination: Characteristic facial features and heart abnormalities aid clinical diagnosis.
• Cardiac Interventions: Individuals with heart defects may require surgery or other interventions.
• Immunodeficiency Management: Proactive management of immune system issues to prevent infections.
• Early Intervention Programs: Speech and physical therapy to address developmental delays.
• Psychiatric Support: For individuals facing behavioral and psychiatric challenges.
The prognosis varies widely based on the severity of symptoms.
With appropriate medical and therapeutic interventions, many individuals with this syndrome lead fulfilling lives.
Support and Resources –
• Genetic Counseling: Offers guidance to individuals and families on the genetic aspects of the syndrome.
• Support Groups: Connecting families facing similar challenges can provide emotional support.
In conclusion, DiGeorge Syndrome is a complex genetic disorder with diverse manifestations. Early diagnosis, medical intervention, and ongoing support play crucial roles in improving the quality of life for individuals affected by this condition. Understanding the genetic basis and associated risks is essential for effective management and support for those living with DiGeorge Syndrome.
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