Question: A genetic counselor ________.

Answer: Helps patients choose whether or not they will undergo genetic testing, explains the results of genetic tests, and helps patients make their own medical decisions

Question: Pedigrees are useful for ________.

Answer: Discovering patterns of inheritance that may suggest familial disease

Question: A patient with monosomy is most easily diagnosed using what technique?

Answer: A karyotype

Question: Genetic testing includes all of the following except ________.

Answer: All of these are forms of genetic testing

• Presymptomatic testing

• - Newborn testing

• - Carrier testing

• - Prenatal testing

• Question: Which of the following diseases, syndromes, or conditions is NOT correctly matched to the genotype or genetic abnormality in humans?

• Answer: Klinefelter syndrome : XYY for the sex chromosomes

• Question: The chance of each of two independent events happening are ________ to determine the probability that both events would happen together.

• Answer: Multiplied by each

• Question: A testing outcome in which a disease is detected, but the sample/patient in reality does not have the disease is called a ________.

• Answer: False positive

• Question: Consider a particular hypothetical case in which the Baysian probability that an unaffected parent is heterozygous for a particular recessive allele is 20% and the other parent has the recessive condition; what is the chance that their first child would have the condition?

• Answer: 10%

• Question: A pregnant woman with recessive X-linked hemophilia and whose partner is a normal (non hemophiliac) man wants to know the chances that she will have an affected child. From an ultrasound, she knows that the child is a boy. What are the chances that her son will have hemophilia?

• Answer: The chance that their son will be affected is 100%

• Question: Two unaffected parents each have a parent with the same recessive condition and they want to know the chances that they will have a child who has the condition. What do you tell them?

• Answer: The chance that their child will be affected is 25%