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Course: Mirror Hand Movements Caused by a Deletion of the DCC Gene

CME Credits: 1.00

Released: 2023-12-04

Sixteen-year-old monozygotic twins were referred to our clinical genetics outpatient clinic by their pediatrician for genetic counseling regarding a chromosomal microarray result. They had been diagnosed with 16p11.2 microdeletion syndrome, which caused learning problems and obesity. Moreover, the microarray identified an unknown deletion on the long arm of chromosome 18. This particular deletion, 18q21.2 (50617175-50866195), had not been described in medical literature, and no similar losses were found in public or in-house databases. The diagnostic genetic laboratory concluded that the 18q21.2 loss was a copy number variant of uncertain significance.


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