Chapter 3. Common Genetic Diseases and Conditions

3.1 Synopsis

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You must read each slide, and complete any questions on the slide, in sequence.

Welcome

Common Genetic Diseases
and Conditions

This activity examines several different types of genetic diseases and conditions.

Click the 'Get Started' button below to start this activity

A young pregnant couple listen carefully to a lady doctor.
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3.2 Common Genetic Diseases and Conditions

Common Genetic Diseases and Conditions

Everyone carries alleles that could produce serious diseases or conditions in their offspring. Most such genes have no serious consequences because they are recessive. However, when the inherited condition is dominant, or when the zygote has received the recessive gene from both parents, the phenotype is affected.

Click on each condition to view its characteristics.

Go to list of Diseases

3.3 Common Genetic Diseases and Conditions

Common Genetic Diseases and Conditions

A small girl with down's syndrome laughs.
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Question 3.1 Testing for genetic disorders during a pregnancy

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Your answer should address the incidence of the disease(s) you selected, the family history, ethnic background, and carrier status (if applicable) of the both of you, as well as whether the disorder can be detected prenatally.

3.4 Activity Completed!

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REFERENCES

Benacerraf, Beryl R. (2007). Ultrasound of fetal syndromes (2nd ed.). Philadelphia, PA: Churchill Livingtone/Elsevier.

Butler, Merlin Gene, & Meaney, F. John. (2005). Genetics of developmental disabilities. Boca Raton, FL: Taylor & Francis.

Centers for Disease Control and Prevention. (2017, November 21). Birth defects: Facts about cleft lip and cleft palate. https://www.cdc.gov/ncbddd/birthdefects/cleftlip.html

Centers for Disease Control and Prevention. (2019, March 21). Hearing loss in children: Data and statistics about hearing loss in children. https://www.cdc.gov/ncbddd/hearingloss/data.html

Centers for Disease Control and Prevention. (2019, May 30). Diabetes: Type 2 diabetes. https://www.cdc.gov/diabetes/basics/type2.html

Centers for Disease Control and Prevention. (2019, June 21). Hemophilia: Data & statistics on hemophilia. https://www.cdc.gov/ncbddd/hemophilia/data.html

Dewan, Michael C.; Rattani, Abbas; Mekary, Rania; Glancz, Laurence J.; Yunusa, Ismaeel; Baticulon, Ronnie E., . . . Warf, Benjamin C. (2018). Global hydrocephalus epidemiology and incidence: systematic review and meta-analysis. Journal of Neurosurgery, 130(4), 1039–1408.

Galanello, Renzo & Origa, Raffaella. (2010). Beta-thalassemia. Orphanet Journal of Rare Diseases, 5(11).

Haydon, Jo. (2007). Genetics in practice: A clinical approach for healthcare practitioners. Hoboken, NJ: Wiley.

Klug, William, Cummings, Michael, Spencer, Charlotte, Palladino, Michael, & Killian, Darrell. (2018). Concepts of genetics (12th ed.). San Francisco, CA: Pearson.

McKusick, Victor A. (2007). Mendelian Inheritance in Man and its online version, OMIM. American Journal of Human Genetics, 80, 588–604.

Moore, Keith L., Persaud, Trivedi V. N., & Torchia, Mark G. (2019). The developing human: Clinically oriented embryology (11th ed.). Philadelphia, PA: Saunders.

National Alliance on Mental Health. (2019). Mental health by the numbers. https://www.nami.org/learn-more/mental-health-by-the-numbers

Shahin, Hashem, Walsh, Tom, Sobe, Tama, Lynch, Eric, King, Mary-Claire, Avraham, Karen, et al. (2002). Genetics of congenital deafness in the Palestinian population: Multiple conexin 26 alleles with shared origins in the Middle East. Human Genetics, 110, 284–289.

U.S. Cancer Statistics Working Group. (2019, June). U.S. cancer statistics data visualizations tool, based on November 2018 submission data (1999–2016). U.S. Department of Health and Human Services, Centers for Disease Control and Prevention and National Cancer Institute.

U.S. National Library of Medicine. (2019, August 6). Genetics home reference: Your guide to understanding genetic conditions. https://ghr.nlm.nih.gov/