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

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: http://runkle-science.wikispaces.com/Cri-du-Chat

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

References GHR. Genes and Disease: Cri-Du-Chat Syndrome [online]. 2014. [cited 2015, June 6]. Available at URL: http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome. GHR. [online]. Chromosome 5. 2013 [cited 2015, June 6]. Available at URL: http://ghr.nlm.nih.gov/chromosome/5 Criduchat. Glaucoma: What you should know about criduchat syndrome [online]. 2014. [cited 2015, June]. Available at URL: http://www.criduchatsyndrome.net/.