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What do you know? Testing the unborn Chromosomal disease Genetic disease 100 100 100 200 200 200 300 300 300 400 400 400 The challenge Testing the unborn - 100 Name the procedure that uses a needle to withdraw fluid from the womb to acquire cells that can be used for a karyotype. . Amniocentesis NEXT QUESTION Testing the unborn - 200 Name an invasive procedure that can be done between the 4th and 9th week of gestation to acquire cells for a karyotype. Chorionic villus sampling. NEXT QUESTION Testing the unborn - 300 • Identify the gender of this patient. Answer: Male, XY NEXT QUESTION Testing the unborn - 400 List three characteristics of DNA that are used to create a karyotype Answer: Length of chromosome Centromere location Banding patterns NEXT QUESTION Chromosomal disease- 100 Provide the notation and its meaning for this karyotype. Answer: 45 X0 Missing an X chromosome, Turner syndrome NEXT QUESTION Chromosomal disease- 200 Provide the notation and its meaning for this karyotype. Answer: 47 XXY An extra X chromosome, Klinefelter Syndrome NEXT QUESTION Chromosomal disease- 300 Provide the notation and its meaning for this karyotype Answer: 47 XX 21+ Female with Down Syndrome NEXT QUESTION Chromosomal disease- 400 Describe the biological process that results in trisomy 21. Answer: When a new cell is forming the chromosomes do not split equally. A new cell may have 22 or 24 chromosomes. When it pairs with a gamete that has the correct haploid number an aneuploidy situation is created. NEXT QUESTION Genetic Disease - 100 Explain the pattern of inheritance associated with this pedigree. Answer: NEXT QUESTION Autosomal dominant. Parents can be heterozygous. Genetic Disease -200 Name a disease that is autosomal recessive. Cystic fibrosis NEXT QUESTION Genetic Disease - 300 How does Huntington’s disease affect a person? Answer: It is a brain disorder that affects their ability to talk, think, and move. NEXT QUESTION Genetic Disease - 400 • How can Cystic fibrosis be treated using gene therapy? Answer: Healthy genes are inserted into the lungs cells. They replace the unhealthy genes. NEXT QUESTION The Challenge - 500 If a person has one allele for a disease does it mean that they have symptoms of the disease? It depends. If it is an autosomal dominant disease then yes. But if it is a recessive disease then no. NEXT QUESTION