Article
The Williams syndrome: evidence for possible autosomal dominant inheritance.
American journal of medical genetics - 15 Sept 1993
Sadler L S, Robinson L K, Verdaasdonk K R, Gingell R
Abstract excerpt
We recently evaluated a mother and son with the Williams syndrome. Documentation of the clinical phenotype in two generations of this family suggests that some cases of the Williams syndrome are autosomal dominantly inherited. Recognition of the heritable nature of the Williams syndrome should prompt careful clinical evaluation of other at-risk relatives in order to provide accurate recurrence risk counseling.
Topics
- Abnormalities, Multiple
- Adult
- Aortic Valve Stenosis
- Face
- Female
- Genes, Dominant
- Humans
- Infant, Newborn
- Intellectual Disability
- Male
- Phenotype
- Syndrome