The patient is a 1 year old female. She is exhibiting the following symptoms:
- Flattened facial features
- Small head
- Short neck
- Protruding tongue
- Upward slanting eyes, unusual for the child's ethnic group
- Unusually shaped or small ears
- Poor muscle tone
- Does not sit up on own
- Tiny white spots on the iris of the eye
- Gel electrophoresis to rule out several suspected genetic causes.
- Chromosomal karyotyping to look for evidence of non-disjunction.
- Blood type testing
- genetic pedigree