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How is 22q11 DiGeorge Syndrome diagnosed?

See how 22q11 DiGeorge Syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of 22q11 DiGeorge Syndrome

22q11 DiGeorge Syndrome diagnosis

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 syndrome can affect various systems in the body, leading to a wide range of symptoms and complications. Diagnosing DiGeorge syndrome involves a combination of clinical evaluation, genetic testing, and imaging studies.



Clinical Evaluation:



The first step in diagnosing DiGeorge syndrome is a thorough clinical evaluation by a healthcare professional. The doctor will review the patient's medical history, conduct a physical examination, and assess the presence of characteristic signs and symptoms associated with the syndrome. These may include:




  • Heart defects

  • Cleft palate

  • Abnormal facial features

  • Low calcium levels

  • Immune system problems

  • Developmental delays

  • Learning difficulties

  • Speech and language delays

  • Psychiatric disorders



If the doctor suspects DiGeorge syndrome based on the clinical evaluation, further testing will be recommended.



Genetic Testing:



Genetic testing is a crucial component of diagnosing DiGeorge syndrome. The most common test used is called fluorescence in situ hybridization (FISH). This test detects the deletion of the specific region on chromosome 22 associated with DiGeorge syndrome. A small blood sample is taken from the patient, and the DNA is analyzed to identify the missing genetic material.



In addition to FISH, other genetic tests such as chromosomal microarray analysis (CMA) may be performed. CMA can detect smaller deletions or duplications in the genome, providing a more comprehensive analysis of the genetic abnormalities associated with DiGeorge syndrome.



Imaging Studies:



Imaging studies are often used to evaluate the structural abnormalities that can occur in individuals with DiGeorge syndrome. The most common imaging study is an echocardiogram, which uses sound waves to create detailed images of the heart. This test helps identify any heart defects or abnormalities that may be present.



In some cases, a magnetic resonance imaging (MRI) scan may be recommended to assess the structure of the brain and other organs. This can help identify any anatomical abnormalities that may contribute to the symptoms experienced by the individual.



Other Tests:



In addition to genetic testing and imaging studies, other tests may be performed to evaluate specific symptoms or complications associated with DiGeorge syndrome. These may include:




  • Blood tests: to assess calcium levels, immune function, and overall health

  • Hearing tests: to evaluate hearing loss or other auditory abnormalities

  • Developmental assessments: to evaluate cognitive and motor skills

  • Psychiatric evaluations: to assess behavioral and mental health concerns



Conclusion:



Diagnosing DiGeorge syndrome involves a comprehensive approach that combines clinical evaluation, genetic testing, and imaging studies. The clinical evaluation helps identify characteristic signs and symptoms, while genetic testing confirms the presence of the specific chromosomal deletion associated with the syndrome. Imaging studies provide further insights into structural abnormalities that may be present. The combination of these diagnostic tools allows healthcare professionals to accurately diagnose DiGeorge syndrome and develop appropriate management and treatment plans for affected individuals.


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3 answers
Translated from spanish Improve translation
Made genetic testing the most common is the fish and mlpa , which allows to confirm or not the deletion or microdeletion of the pair 22

Posted Mar 8, 2017 by Patricia 1211
Translated from portuguese Improve translation
With examinations of fan and other , test chirmer, biopsy of the salivary glands

Posted Sep 30, 2017 by Luciana 1000

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22Q11 DIGEORGE SYNDROME STORIES
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I was diagnosed at 1 year of age. 
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I have 22q. I wasn't diagnoses till after my youngest was born, then found myself, middle son and youngest have digeorge syndrome.  More story to come 
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While in the NICU I was diagnosed with DiGeorge Syndrome. I was five weeks old at the time of diagnosis. We are moving forward with all of my specialist appointments to determine the range of my syndrome. 
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My daughter was diagnosed at 5 days old with digeorge. She is now 8 months old. We are still learning about her spectrum.
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HE HAS 22Q DELETION. CLEFT LOW CALCIUM  KIDNEY STONES TWO STROKES  HYDROCEPHALUS  FEEDING ISSUES  LOW MUSCLE TONE  DEVELOPMENTAL DELAY  

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