Definition:
CATCH 22 syndrome comprises an extensive range of developmental defects linked to microdeletions of chromosomal area 22q11.2. More known examples of CATCH 22 phenotype are Velo-Cardio-Facial syndrome, DiGeorge syndrome, and Opitz GBBB syndrome. The acronym CATCH 22 summarizes the major medical features of the 22q11.2 deletions.
Diagnosis:
The syndrome is detected through FISH or Fluorescence in Situ Hybridization with the use of DNA probes. This kind of genetic testing is extensively available for prenatal and clinical testing of the syndrome.
Treatment:
While researchers are currently developing genetic transplantation techniques, this disease has no existing genetic treatment yet. Treatment is mainly symptomatic, antibiotics are used to treat infections, and patients can undertake cardiac surgery for heart abnormalities.
Symptoms and Signs:
The syndrome's symptoms vary extensively, even within members of one family; it also affects several parts of the human body. Characteristic symptoms and signs include inborn heart defects, cleft palate, learning disabilities, autism, immune deficiency, hearing loss, recurrent fungal or viral infections, and slight differences in features of the face.
Causes:
CATCH 22 Syndrome is due to genetic deletions or loss of small portion of genetic material of the 22nd chromosome. Since expression pattern of every gene that maps the CATCH 22 area is similar, it is deemed that the area itself behaves like one functional structure; thus any disruption of the genes would be enough to cause the syndrome.
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