1. What does this protein make up or do?
Chapter 1: Chromosome 5
DNA Sequence
Chromosome
932,203 bp
Name of Protein 5
Name of Gene
catenin
CTNND2
transcription
Amino acid sequence
mRNA
1225 aa
translation
Cytoplasm
A Cell
Nucleus
What does this protein make up or do?
brain and eye development and cancer formation.
Condition/Disease
Cri-du-chat syndrome

2. Description of Cri-du-chat Syndrome
Symptoms and characteristics
Syndrome has many symptoms that affect everyday physically and mentally for those effected.
They experience delayed development, small head size, etc.
The syndrome is caused by a deletion on the short arm of chromosome five. A number of genes are missing due to the deletion, and each can contribute to the symptoms the child experiences.
Diagnosed through many testing, and there is no cure or treatment yet.
Normal Vision
Physical deformations: clephed lip, small head, far apart eyes, and round face.
Photo:

3. Description of Cri-Du-Chat (cont.)
Who is affected? Anyone, it’s random.
No sign yet of inheritance, just a mutation on the fifth chromosome.
Affects every ethnicity equally.
Affects 1 in 20,000 to 50,000 newborns.
Outlook or quality of life
As the child grows some symptoms and signs may lessen, others may become more severe
Special school is recommended
If the child isn’t nurtured as part of therapy, the parents can expect him or her to remain at a very low intellect level for the rest of his life
Other problems: low learning, complications doing everyday things, slight mental retardation depending on the severity, slight behavioral problems, speech difficulty, and sometimes organ defects
Researcher: Melinda Chambers

4. References
GHR. Genes and Disease: Cri-Du-Chat Syndrome [online] [cited 2015, June 6]. Available at URL:
GHR. [online]. Chromosome [cited 2015, June 6]. Available at URL:
Criduchat. Glaucoma: What you should know about criduchat syndrome [online] [cited 2015, June]. Available at URL: