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Chromosome Abnormalities

Chromosome Abnormalities . The typical person has 46 chromosomes IN EACH CELL. They get 23 chromosomes from their mother and 23 from their father. . 46 Chromosomes. Diploid vs. Haploid. The mom gives a haploid cell (n) called ovum (a.k.a. – EGG) which contains 23 chromosomes.

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Chromosome Abnormalities

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  1. Chromosome Abnormalities

  2. The typical person has 46 chromosomes IN EACH CELL. They get 23 chromosomes from their mother and 23 from their father. 46 Chromosomes

  3. Diploid vs. Haploid The mom gives a haploid cell (n) called ovum (a.k.a. – EGG) which contains 23 chromosomes. The dad gives a haploid cell (n) called sperm which contains 23 cells. Together the egg and sperm create a cell that is DIPLOID (2n) and has 46 chromosomes.

  4. Turner Syndrome • Down Syndrome • Edward’s Syndrome • Cystic Fibrosis • Sickle Cell Anemia • Cri du chat • Tay-Sachs Disease • Neurofibromatosis • Polycystic Kidney Disease When do genetic disorders occur? A genetic disorder is an abnormal condition that a person inherits though genes or chromosomes. Genetic disorders are caused by mutations, or changes in a person’s DNA.

  5. The 3 types of mutations are: • Deletion – when a base pair is left out • Insertion – an extra base pair is added • Substitution – when a incorrect base replaces a correct base Deletions, Insertions, Substitutions, OH MY!

  6. Original DNA Code AAACCCGGG TTTGGGCCC MUTATIONS Insertion AAACACCGGG TTTGTGGCCC Deletion AAACCGGG TTTGGCCC Substitution AAACACGGG TTTGTGCCC

  7. A mutagen is anything that can cause a mutation in DNA. • Examples of mutagens include: • Radiation • Asbestos • Chemicals in cigarette smoke • Pollution Mutagens

  8. Down Syndrome is a genetic disorder in which a person’s cells have an extra copy of chromosome # 21, which is a trisomy 21. • The extra chromosome is due to an error in meiosis. • People with Down Syndrome have intellectual disabilities, characteristic facial features, and weak muscle tones. Down Syndrome

  9. Down Syndrome – 3 copies of 21st chromosome • Turner Syndrome– incompleteormissing X chromosome(girlsonly) • Edward’sSyndrome– 3 copies of the 18th chromosome • Triploidy – 3 copies of everychromosome Other Chromosome Abnormalities

  10. Translocation – Results when chromosomes don’t match up with their partner • 12 & 21 • 12 & 12 • Some types of Leukemia a said to be a result of the translocation of the 12th and 21st chromosome • Full Trisomy – results when each cell has 3 COMPLETE copies of the chromosome. • This is the MOST severe trisomy. Levels of Severity

  11. Partial trisomy – results when the 3rd chromosome is only ½ size • Mosaic – parts of a chromosome are duplicated in SOME cells but not ALL. Severity, continued

  12. My daughter Maddox Elise (Maddie) was diagnosed with Triploidy on December 31, 2008. • Maddie had a total of 69 chromosomes in each cell. • She had a full extra set of chromosomes. MADDOX ELISE HODGEand TRIPLOIDY

  13. Maddie’s Karyotype

  14. Triploidy is a rare fatal genetic disorder that only happens in approximately 1% of pregnancies. 1 in 10,000 women have a baby with Triploidy. • Most babies diagnosed with Triploidy are not born alive. Women tend to spontaneously miscarry a baby with Triploidy between 7 -17 weeks. • Triploidy can happen from an extra set of maternal OR paternal chromosomes. TRIPLOIDY

  15. Triploidy is random in occurrence can’t be prevented. • Each occurrence is an INDEPENDENT EVENT – therefore my chances of another pregnancy ending in Triploidy are not greater since I’ve already had one. TRIPLOIDY

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