Concrete Genetic Link to VCFS

Fluorescent In Situ Hybridization (FISH). The circled area on this slide shows the deletion of one segment of one chromosome 22, indicating the patient has velo-cardio-facial syndrome.

Through his research at the Albert Einstein College of Medicine, Dr. Shprintzen has conclusively linked VCFS to the deletion of a small segment of chromosome 22. "The syndrome frequently evolves into separation anxiety, attention deficit disorder, bipolar affective disorder and even manic depressive psychosis," Dr. Shprintzen reports. "So this may be the first hard genetic link to mental illness.

"In the field of communicative disorders, there has always been argument about nature vs. nurture," he adds. "People in the scientific community are slow to adopt the notion that genetic make-up can predict behavior. But this is clear proof that genetics impacts behavior." base.

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