1. karyotype
picture of the chromosomes in a cell used to check for abnormalities
Prenatal diagnosis: Trisomy 21 (Down’s syndrome)

2. Preparing a karyotype harvest cells Postnatal diagnostic karyotype
tumor biopsy
skin cells from mouth (ie. for non-cancer related diagnoses)
Prenatal diagnostic karyotype
chorionic villi sampling (CVS)
amniocentesis

3. Who is offered amniocentesis or CVS?
maternal age (women 35 or older)
Risk of Down’s syndrome:
mother in 20s 1/ % OK
mother at / % OK
mother at / % OK

4. Prenatal diagnosis: amniocentesis sampling cells from amniotic fluid
usually done ~ weeks

5. DiGeorge syndrome/CATCH22
microdeletion on chromosome 22
birth defect that affects the immune system
absence of or underdevelopment of the thymus and parathyroid glands
facial features include low-set ears, wide-set eyes, small jaw, and bowing up of upper lip

6. Engage Genetic Disorders
Patau Syndrome
Edward Syndrome
Klinfelter’s Syndrome
Turner Syndrome
Super Male Syndrome
Super Female Syndrome

7. 47, XX or XY, +13
serious eye, brain, circulatory defects as well as cleft palate. 1:5000 live births. Children rarely live more than a few months.
Patau Syndrome

9. Edward Syndrome
almost every organ system affected 1:10,000 live births. Children with full Trisomy 18 generally do not live more than a few months.

10. Turner Syndrome

11. Turner Syndrom

12. Kleinfelter Disease

13. Kleinfelter

14. Super Male and Super Female
- Has an XXX - Fertile females with normal intelligence
Has an XYY - Tall male with heavy acne - Some tendency to mental retardation
Aggressive tendency