Exercise I - Introduction to Human Genetics 096:116...

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Introduction to Human Genetics 096:116 Application Exercise I Due by midnight on 9/22/06 Name: 1) Down syndrome (DS) is a common genetic disease caused by abnormalities of chromosome 21. Explain how these abnormalities can arise due to: a) Aneuploidy (1.5 points) - nondisjunction (in meiosis or mitosis) leads to lost, or in the case of Down syndrome, extra chromosomes. b) A chromosomal translocation (1.5 points) - a parent has a Robertsonian translocation between the 21 st chromosome and another (usually 14). That person produces a few gametes that lack either of the involved chromosomes and some gametes that have extra material from one of the translocated chromosomes. This usually leads to either spontaneous abortion or Down syndrome. 2) Kaneesha, who is 35 years old, is pregnant with her first child. She is advised by her physician to obtain prenatal testing for DS. a) Why is Kaneesha at an increased risk for having a child with DS? (1.0 point) - because the likelihood of having a child with Down syndrome increases dramatically with a mother’s age.
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