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Chapter 3. Common Genetic Diseases and Conditions

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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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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. The phenotype is affected only when the inherited condition is dominant or when a zygote is homozygous for a particular recessive condition, that is, when the zygote has received the recessive gene from both parents.

Click on each condition to view its characteristics.

Go to list of Diseases

Go to list of Diseases

Common Genetic Diseases and Conditions

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

Suppose you or your partner were pregnant, and you both felt it was important to undergo testing for at least one genetic disorder. For which disorder(s) would you seek testing, and why? (Click the back button to review the table of disorders before answering.)
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.

Congratulations! You have completed this activity.

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.

Cruz-Inigo, Andres E., Ladizinski, Barry, & Sethi, Aisha. (2011). Albinism in Africa: Stigma, slaughter, and awareness campaigns. Dermatologic Clinics, 29, 79–87.

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

Hemminki, Kari, Sundquist, Jan, & Lorenzo Bermejo, Justo. (2008). Familial risks for cancer as the basis for evidence-based clinical referral and counseling. The Oncologist,13, 239–247.

Klug, William, Cummings, Michael, Spencer, Charlotte, & Palladino, Michael. (2008). Concepts of genetics (9th ed.). San Francisco, CA: Pearson/Benjamin Cummings.

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. (2007). The developing human: Clinically oriented embryology (8th ed.). Philadelphia, PA: Saunders/Elsevier.

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.