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Interstitial deletion and ring chromosome derived from 16q
Journal of Medical Genetics
|May 1, 1987
Insights
A rare interstitial deletion of 16q was found in an infant with health issues. The infant
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Interstitial deletions of chromosome 16q are uncommon genetic abnormalities.
- These deletions can lead to a range of developmental and physical abnormalities in affected individuals.
Abstract:
An interstitial deletion of 16q was identified in an infant with failure to thrive, dysmorphic facies, and congenital heart defects. The mother of this infant had a similar deletion of 16q with ring formation of a fragment presumed to be derived from the deleted portion of 16q. We discuss these cases and compare them to other reports of 16q deletions.