1 / 14

Chromosomal Disorders & Karyotyping

Learn about the causes and types of chromosomal disorders, such as Down Syndrome, Turner's Syndrome, and Klinefelter's Syndrome. Discover how these disorders affect individuals' chromosomal profiles and health. Explore diagnostic tests and their significance in detecting chromosomal abnormalities.

pattersonk
Download Presentation

Chromosomal Disorders & Karyotyping

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Chromosomal Disorders & Karyotyping Notes #5

  2. What causes Chromosomal Disorders? • ANS: Occurs when homologous chromosomes or sister chromatids do not separate, creating unequal # of chromatids in each gamete (sex) cell.

  3. Nondisjunction: The process where chromosomes or chromatids do not split evenly into each daughter cell.

  4. How many chromosomes do healthy individuals have? ANS: There are ________ pairs of body/autosomal chromosomes and _______ pair of sex chromosomes found in each normal body cells. Resulting to a total of ______ pairs homologous chromosomes. 22 1 23

  5. Types of Chromosomal Disorders • Down Syndrome (aka Trisomy 21) • Person has 3 copies of Chromosome #21 • Occurs in 1 of 800 births Chromosome Profile of a Person w/ Down Syndrome

  6. Symptoms of Down Syndrome

  7. 2. Turner’s Syndrome Chromosome Profile of Turner’s Syndrome Occurs in females only She is born with one “X” sex chromosome Her genotype is: XO Health problems: Sterile because sex organs do not develop at puberty.

  8. Turner Syndrome

  9. Chromosome Profile of Klinefelter 3. Klinefelter’s Syndrome Occurs in males Cause: Inheriting extra “X” set chromosomes Genotypes a. XXY b. XXXY c XXXXY Intersex Individuals (used to be called hemaphrodites) Genotype: XXY

  10. How does Klinefelter’s Syndrome Happen? XXY XXY

  11. Klinefelter’s Syndrome

  12. What lab tests are used to detect Chromosomal Disorders before birth? ANS: There are 2 tests, Amniocentesis and Karyotypes. 1. Amniocentesis: A procedure where a needle is inserted into uterus to extract amniotic fluid to obtain fetal cells

  13. 2. Karyotype: Ordered display of chromosomes obtained from fetal cells ordered by size Large (#1) to small (#22) Sex Chr. (#23)

  14. Can you diagnose what chromosomal disorder is displayed by the karyotype seen below? ANS: Klinefelter’s Syndrome (XXY)

More Related