All of the following are examples of microdeletion syndromes, EXCEPT:
Correct Answer: None of the above
Description: The term contiguous gene syndrome refers to genetic disorders that mimic a combination of single-gene disorders. They result from the deletion of a small number of tightly clustered genes. Because some are too small to be detected cytogenetically, they are termed microdeletions. The application of molecular techniques has led to the identification of at least 18 of these microdeletion syndromes. Some of the more common ones include the Wilms' tumor-aniridia complex (WAGR), Miller Dieker syndrome (MDS), and velocardiofacial (VCF) syndrome. WAGR is characterized by mental retardation and involvement of multiple organs, including kidney (Wilm's tumor), eye (aniridia), and the genitourinary system. Ref: Harrison's principle of internal medicine 17th edition, chapter 64.
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