KARYOTYPING

1.What is this? 2.How many chromosomes are in a human body cell? 3.How many pairs are in a human cell? 4.Which chromosomes determine gender in a normal person?

1. What is this???? 2. What can you determine about a person by looking at their chromosomes? 3. How do you think you can organize the chromosomes to identify the gender or any abnormalities more quickly?

KARYOTYPES  Karyotype: a display of 46 chromosomes of an individual  Chromosomes are photographed while visible in metaphase  Arranged by size and centromere location  Human body cells  46 chromosomes—23 pairs of homologous chromosomes  Each chromosome has a twin that resembles it in size and shape (except sex chromosomes in males)

NORMAL FEMALE

NORMAL MALE

DOWN SYNDROME

KLINEFELTER SYNDROME

TURNER SYNDROME

BECOME A GENETIC COUNSELOR FOR A DAY

GENETIC DISORDER & KARYOTYPING PROJECT Background: Occasionally the chromosomal material can be lost or rearranged during the formation of gametes or during cell division. Some abnormalities that are associated with chromosome structure and number can be detected by a karyotype. The karyotype can show prospective parents whether they have certain abnormalities that can be passed on to their children or as a diagnosis. The karyotype can also determine gender of the offspring. To create a karyotype, chromosomes from a cell are stained and photographed. Two karyotypes will be analyzed by you, the genetic counselor. The first represents a Normal human karyotype of a male or female. The second will represent the Abnormal karyotype to diagnose the abnormality. Once you have completed this step you will inform me of which genetic disorder you have diagnosed. You will then get together with the 2 or 3 other genetic counselors to research the genetic disorder and create a brochure, poster, PowerPoint, etc. covering the relevant points of the disorder. Your team will give a brief presentation with an overview of the genetic disorder.

MUST INCLUDE: o Image of the karyotype o Explain the abnormality o Name of disorder & any nicknames o What causes the disorder & what gene or chromosome is affected? o What are the symptoms or effects on the individual with this disorder? o Frequency (ex: 1/800 live births are effected by Down Syndrome) or which population is affected (is it just males, females, certain ethnicities, etc.)? o Are there prenatal tests for this disorder? o How does it effect an individual’s lifestyle? What is the long-term outlook for an individual with this disorder? o Are there any treatments or cures? o What is the current status of research on this disorder? o Interesting facts such as Information on support groups! o 3-4 minutes of ALL members presenting