Article
An unusual presentation of Smith-Magenis syndrome with iris dysgenesis.
Clinical dysmorphology - 1 Apr 1996
Barnicoat A J, Moller H U, Palmer R W, Russell-Eggitt I, Winter R M
Abstract excerpt
A boy who presented with iris dysgenesis is described. He was shown to have Smith-Magenis syndrome with a deletion of 17p11.2.
Topics
- Adult
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- DNA Probes
- Eye Abnormalities
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Iris
- Karyotyping
- Male
- Phenotype
- Syndrome
