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Review

Review. What is a genome? What is the difference between a haploid and a diploid cell? Meiosis produces ______________ cells M itosis produces _______________ cells. Describe where mutations occur. Explain how mutations are connected to proteins. Identify how mustations can occur.

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Review

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  1. Review • What is a genome? • What is the difference between a haploid and a diploid cell? • Meiosis produces ______________ cells • Mitosis produces _______________ cells. • Describe where mutations occur. • Explain how mutations are connected to proteins. • Identify how mustations can occur. • Explain how mutations can be passed to offspring.

  2. Mutations in sex cells Klinefelter syndrome Turner syndrome • occurs in about 1 out of 500 - 1,000 newborn boys • Results in males who have at least one extra X chromosome: XXY • occurs as a random event during the formation of sex cells (ovum or sperm) or during fetal development. • Abnormal body proportions • Abnormally large breasts • Infertility • Less than normal amount of pubic, armpit, and facial hair • Tall height • female patient has only one X chromosome: XO • occurs in about 1 out of 2,000 live births • occurs as a random event during the formation of sex cells (ovum or sperm). • Absent or incomplete development at puberty • Drooping eyelids • Infertility • No periods (absent menstruation) • Short height

  3. Triple x syndrome • Females born with an extra X in each cell: XXX • occurs in about 1 in 1,000 newborn girls • occurs as a random event during the formation of sex cells (ovum or sperm). • An extra copy of the X chromosome associated with tall stature, learning problems, and other features in some girls and women. • Most females with triple X syndrome have normal sexual development and are able to conceive children.

  4. Pseudohermaphrodism • genetically male: XY or XX • People with XX intersex have the chromosomes and ovaries of a female but external genitalia that appear male, but are underdeveloped • People with XY intersex have the chromosomes and testes of a male, but external genitalia that appear female • Mutation in a gene on chromosome 9, 6, or 8 during fetal development • An overexposure to the hormones of the opposite chromosomal sex while in utero may cause the genitals to develop abnormally. • XY intersex occurs in approximately 1 in 147,000 newborns. more common in the Arab population of Gaza, where it affects 1 in 200 to 300 people. • Inherited and recessive http://www.pbs.org/wgbh/nova/body/intersex-spectrum.html

  5. "What Is a Gene Mutation and How Do Mutations Occur? - Genetics Home Reference."Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 29 Jan. 2012. <http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/genemutation>. Wolchover, Natalie. "How Many Genetic Mutations Do I Have? | LifesLittleMysteries.com."Home | LifesLittleMysteries.com. 16 June 2011. Web. 29 Jan. 2012. <http://www.lifeslittlemysteries.com/1536-mutants-average-human-60-genetic-mutations.html>.

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