Cat Eye Syndrome Flashcards
1
Q
What are the symptoms of Cat Eye Syndrome?
A
Iris Coloboma
Anal atresia (opening to anus is missing)
Skin tags or pits in front of the ears
Usually shaped ears (usually smaller ears)
Short neck
Hypertelorism (widely spaced eyes)
Downward slanting palpebral fissures (outside corners of the eye point downward)
Urinary tract problems
Congenital heart defects
2
Q
What genes are involved in Cat Eye Syndrome?
A
Duplication of chromosome 22 OR
De novo mutation
3
Q
What is the inheritance pattern for Cat Eye Syndrome?
A
Duplication of chromosome 22–> autosomal dominant
Most cases are not inherited–> de novo mutation in formation of egg or sperm
4
Q
What is the phenotype of the heterozygous in Cat Eye Syndrome??
A
They will express the symptoms of the disorder
