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Understanding 22q11.2 Deletion in DGS by ather.aanif is a document available to read on EtoBox.
What is Understanding 22q11.2 Deletion in DGS about?
DiGeorge Syndrome (DGS) is caused by a 3-Mb hemizygous deletion on chromosome 22q11.2, affecting approximately 90% of cases, primarily de novo. Clinical presentations include heart abnormalities, immune deficiencies, and developmental delays, with TBX1 mutations linked to its pathophysiology. Diagnosis involves detailed family history and advanced molecular techniques, while treatment focuses on supportive therapies such as immunization, speech therapy, and genetic counseling.
- Author
- ather.aanif
- Language
- EN