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Podcast: Dr. Chapa’s OBGYN Clinical Pearls
Episode: DiGeorge Deletion Syndrome
Description: DiGeorge syndrome… what a complicated condition for such a little area of a single chromosome being affected. The condition’s descriptive and preferred name is 22q11.2. This is called a microdeletion. Along with microduplications, microdeletions are collectively known as copy number variants. Copy number variants can lead to disease when the change in copy number of a dose-sensitive gene or genes disrupts the ability of the gene(s) to function and affects the amount of protein produced. Other examples of microdeletion syndromes include Prader- Willi, (which is a deletion on 15q), and Cri du chat syndrome which results from a micr...