Chromosome Mutations A large piece of a chromosome is altered during meiosis Addition of an extra chromosome Deletion of a chromosome.

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Chromosomal Abnormalities

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Presentation transcript:

Chromosome Mutations A large piece of a chromosome is altered during meiosis Addition of an extra chromosome Deletion of a chromosome

Down Syndrome By: Mr. Morse

What is it? Trisomy 21: Individuals with Down Syndrome have 3 copies of the 21st chromosome Causes intellectual disabilities, health issues, and certain physical characteristics Severity of Down Syndrome can vary greatly between individuals

Symptoms and Characteristics Down Syndrome causes developmental delays and intellectual disabilities. Characteristics of individuals with this syndrome include… Low muscle tone Flat facial features including a small nose Small, abnormally shaped ears Hyperflexibility Single deep crease across the palm About 50% of individuals with Down Syndrome have heart issues

Causes Trisomy 21: Individuals with Down Syndrome have 3 copies of the 21st chromosome. (nondisjunction) From improper division in meiosis I or meiosis II. One gamete will end up with 2 copies of the 21st chromosome. Mosaic Down Syndrome: some cells have 3 copies, some have the normal 2 At some point development (after fertilization), during mitosis, some cells will end up an extra copy of the 21st chromosome Translocation: individuals have normal number of chromosomes, but an extra section of a 21st chromosome is attached improperly to another chromosome.

Prevalence Increased risk of down syndrome with age of mother. Due to increased chance of loss of spindle fiber checkpoint

Treatment There is no cure, it is a lifelong syndrome. Individuals with Down Syndrome have a higher quality of life if early intervention is in place. This includes… Speech therapy Social skill development Special education Medical care Life Expectancy: 60 years of age

Interesting Facts 90% of the cases are caused by trisomy in the egg. 4% from trisomy in the sperm Many individuals with Down Syndrome grow up and hold jobs, participate in recreation, and even live independently

Works Cited Bernasconi, Andrea. "Nondisjunction - The Causes Of Nondisjunction And Its Frequency In Humans." - Age, Chromosome, Spindle, and Cell. N.p., n.d. Web. 13 Jan. 2015. Mayo Clinic. "Down Syndrome." Definition. Mayo Foundation for Medical Education and Research, n.d. Web. 13 Jan. 2015. NDSS. "Down Syndrome Facts." - National Down Syndrome Society. National Down Syndrome Society, n.d. Web. 11 Jan. 2015. WebMD. "Down Syndrome Symptoms -- Typical Physical Characteristics." WebMD. WebMD, n.d. Web. 11 Jan. 2015.