Question 1

Which of the following is true of phenylketonuria?
A) It results from a recessive gene.
B) It is a chromosomal disorder.
C) It results in death by the age of five.
D) It is caused by an accumulation of lipids in the nervous system.

Accepted Answer

Phenylketonuria results from a recessive gene, specifically a mutation in the gene for phenylalanine hydroxylase, which is needed to break down the amino acid phenylalanine. Without this enzyme, phenylalanine and its byproducts can build up in the body and cause brain damage, intellectual disability, and other health problems.

Question 2

Gwendolyn, a pregnant woman, is undergoing a prenatal medical procedure in which her doctor directs high-frequency sound waves into her abdomen to create a visual representation of the fetus's inner structures. The doctor informs her that the procedure will reveal the number of fetuses she is carrying, detect abnormalities in the fetus, and give clues to the sex of the baby. In this scenario, which of the following prenatal medical procedures is Gwendolyn most likely undergoing?
A) Chorionic villus sampling
B) Triple screen
C) Amniocentesis
D) Ultrasound sonography

Accepted Answer

Gwendolyn is undergoing ultrasound sonography, which uses high-frequency sound waves to create a visual representation of the fetus's inner structures. This procedure can reveal the number of fetuses, detect abnormalities, and give clues to the sex of the baby. Chorionic villus sampling and amniocentesis are both invasive prenatal procedures that involve taking a sample of the fetus's cells, while the triple screen is a blood test that screens for certain genetic or chromosomal conditions.

Question 3

________ is a genetic abnormality in which delayed blood clotting causes internal and external bleeding.
A) Hemophilia
B) Phenylketonuria
C) Sickle-cell anemia
D) Tay-Sachs disease

Accepted Answer

Hemophilia is a genetic abnormality that affects the blood's ability to clot, resulting in internal and external bleeding that can be severe and life-threatening. It is caused by a deficiency in clotting factors VIII or IX, which are necessary for blood clotting. Phenylketonuria is a disorder that affects the breakdown of an amino acid called phenylalanine. Sickle-cell anemia is a genetic disorder that affects hemoglobin, a protein in red blood cells that carries oxygen. Tay-Sachs disease is a rare genetic disorder that affects the nervous system, causing progressive deterioration of motor and mental abilities.

Question 4

________ uses a powerful magnet and radio images to generate detailed images of the body's organs and structures.
A) Triple screen
B) MRI
C) Ultrasound sonography
D) Amniocentesis

Accepted Answer

MRI (Magnetic Resonance Imaging) uses a powerful magnet and radio waves to create detailed images of the body's organs and structures. Triple screen, ultrasound sonography, and amniocentesis are not imaging techniques that use magnets and radio waves.

Question 5

Mary and Jim are expecting a child. During prenatal diagnostic testing, the doctor confirms that the fetus has a genetic abnormality that will lead to a neural tube disorder causing brain and spine abnormalities. He also tells the parents that the baby will most likely have protruding tissue, especially from the lower back, and that the abnormality can be treated with corrective surgery at birth, orthopedic devices, and physical or medical therapy. Which of the following disorders is Mary and Jim's child suffering from?
A) Spina bifida
B) Tay-Sachs disease
C) Phenylketonuria
D) Huntington's disease

Accepted Answer

The description matches that of spina bifida, which is a neural tube defect that can lead to brain and spine abnormalities and often results in protruding tissue from the lower back. Treatment options include corrective surgery at birth, orthopedic devices, and physical or medical therapy. Tay-Sachs disease, phenylketonuria, and Huntington's disease are all genetic conditions, but they do not share the same symptoms as spina bifida.

Question 6

Joshua, a two-year-old, has been diagnosed with ________, a blood disorder that limits the body's oxygen supply and can cause joint swelling and heart and kidney failure. This genetic disorder can be treated through penicillin, pain medication, antibiotics, blood transfusions, and hydroxyurea.
A) spina bifida
B) Tay-Sachs disease
C) sickle-cell anemia
D) Huntington's disease

Accepted Answer

The symptoms described in the question match those of sickle-cell anemia, a genetic disorder that affects the shape of red blood cells and causes them to become crescent-shaped, reducing their ability to carry oxygen. Treatment options include penicillin, pain medication, antibiotics, blood transfusions, and hydroxyurea.

Question 7

Which of the following is a gene-linked abnormality?
A) Down syndrome
B) Phenylketonuria (PKU)
C) Turner syndrome
D) Klinefelter syndrome

Accepted Answer

Phenylketonuria (PKU) is a gene-linked abnormality. Down syndrome, Turner syndrome, and Klinefelter syndrome are chromosomal abnormalities.

Question 8

Which of the following would be an appropriate course of treatment for a person diagnosed with cystic fibrosis?
A) Medication for pain, antibiotics, blood transfusions, and hydroxyurea
B) Insulin treatment
C) Blood transfusions/injection
D) Physical and oxygen therapy, synthetic enzymes, and antibiotics

Accepted Answer

Cystic fibrosis is a genetic disorder that affects the lungs, pancreas and other organs. There is currently no cure for cystic fibrosis, but treatment options are available to manage the symptoms and reduce complications. Physical and oxygen therapy help to clear the airways and improve breathing, while synthetic enzymes aid in digestion. Antibiotics are used to treat or prevent lung infections that can be life-threatening in people with cystic fibrosis.

Question 9

Paul has a gene-linked abnormality, and as a result he suffers from an X-linked inheritance disease. Because of this disease, Paul suffers from internal and external bleeding due to delayed blood clotting. Which of the following will effectively treat Paul's condition?
A) Hydroxyurea
B) Blood transfusions
C) Anticoagulants
D) Blood irradiation therapy

Accepted Answer

Blood transfusions are effective in treating conditions like hemophilia, which is an X-linked inheritance disease characterized by delayed blood clotting. This treatment can replace missing clotting factors, thereby reducing the risk of bleeding.

Question 10

________ is a gene-linked abnormality in which the central nervous system deteriorates, producing problems in muscle coordination and mental deterioration.
A) Cystic fibrosis
B) Phenylketonuria
C) Huntington's disease
D) Tay-Sachs disease

Accepted Answer

Huntington's disease is a genetic disorder that causes the progressive breakdown of nerve cells in the brain, leading to impaired muscle coordination and mental deterioration. Cystic fibrosis and Phenylketonuria are genetic disorders but they do not primarily affect the central nervous system. Tay-Sachs disease is also a genetic disorder but it causes the progressive destruction of nerve cells in the brain and spinal cord, leading to paralysis and death.

Question 11

Identify a risk related to the use of chorionic villus sampling (CVS) as a prenatal diagnostic test.
A) limb deformity
B) spina bifida
C) down syndrome
D) mental retardation

Accepted Answer

Limb deformity is a potential risk associated with chorionic villus sampling (CVS), especially when the procedure is performed before 10 weeks of gestation.

Question 12

Lindsay's body does not produce enough insulin, causing abnormal metabolism of sugar. She is receiving insulin treatment. Lindsay has
A) spina bifida.
B) hemophilia.
C) phenylketonuria.
D) diabetes.

Accepted Answer

Lindsay's lack of insulin production and need for insulin treatment indicate that she has diabetes.

Question 13

Samantha is diagnosed with a genetic disorder. She suffers from glandular dysfunction that hinders mucus production. She has difficulty in breathing, and her digestion is hampered. She also has frequent lung infections and suffers from shortness of breath. In this scenario, which of the following genetic disorders is Samantha most likely suffering from?
A) Cystic fibrosis
B) Huntington's disease
C) Phenylketonuria
D) Tay-Sachs disease

Accepted Answer

Samantha is most likely suffering from cystic fibrosis, as it is a genetic disorder that affects glandular function and causes thick, sticky mucus to build up in the lungs, pancreas, and other organs. This can result in difficulty breathing, digestive issues, frequent lung infections, and shortness of breath. Huntington's disease, phenylketonuria, and Tay-Sachs disease do not typically present with these symptoms.

Question 14

Benny has been diagnosed with a gene-linked abnormality characterized by deceleration of mental and physical development caused by an accumulation of lipids in the nervous system. He has been put on medication and a special diet, but his family has been told that he will probably not live beyond the age of five. Benny is suffering from
A) spina bifida.
B) Tay-Sachs disease.
C) phenylketonuria.
D) Huntington's disease.

Accepted Answer

Benny's symptoms, including deceleration of mental and physical development and accumulation of lipids in the nervous system, are characteristic of Tay-Sachs disease. This is a genetic disorder that results in progressive neurological deterioration and shortens lifespan. The medication and special diet are aimed at managing symptoms, but there is no cure for the disease. Spina bifida is a congenital condition affecting the spine, phenylketonuria is a metabolic disorder, and Huntington's disease is a neurodegenerative disorder, none of which match Benny's symptoms.

Question 15

Esperanza, who is in the 11th week of her pregnancy, is undergoing a prenatal diagnostic test that involves the removal of a small sample of the placenta. The doctor informs her that the test may detect any genetic defects and chromosomal abnormalities in the fetus and that she will have to wait for at least 10 days for the diagnosis. In this scenario, which of the following prenatal medical procedures is Esperanza most likely undergoing?
A) Chorionic villus sampling (CVS)
B) Amniocentesis
C) Noninvasive prenatal diagnosis (NIPD)
D) Triple screen

Accepted Answer

Chorionic villus sampling (CVS) involves the removal of a small sample of the placenta to diagnose any genetic defects or chromosomal abnormalities in the fetus. The test is usually performed in the 10th-13th week of pregnancy, and results can be obtained within 10 days. Amniocentesis is another prenatal diagnostic test that involves the removal of a small sample of the amniotic fluid, but it is usually performed in the 14th-20th week of pregnancy. Noninvasive prenatal diagnosis (NIPD) is a newer technology that uses a maternal blood sample to analyze fetal DNA for genetic disorders, but it is not commonly used for chromosomal abnormalities. Triple screen is a maternal blood test that screens for various fetal abnormalities, but it does not involve the removal of any tissue samples.

Question 16

Tamara, an African American, is born with a genetic disorder that causes her body's red blood cells to become hook shaped instead of being disk shaped, impairing the normal oxygen-carrying capacity of the cells. The doctors explain to Tamara's parents that this condition, however, makes her resistant to malaria. Which of the following disorders is Tamara most likely suffering from?
A) Tay-Sachs disease
B) Sickle-cell anemia
C) Leukemia
D) Huntington's disease

Accepted Answer

Tamara is likely suffering from sickle-cell anemia, which is most commonly found in people of African descent. The disorder causes red blood cells to become sickle or crescent-shaped, leading to reduced oxygen-carrying capacity and other complications. However, those with sickle-cell anemia are more resistant to malaria.

Question 17

Phenylketonuria (PKU) is a genetic disorder in which an individual cannot properly metabolize ________, an amino acid.
A) phenylamine
B) phenylalanine
C) phenylacetylene
D) phenylacetamide

Accepted Answer

PKU is caused by a deficiency in the enzyme phenylalanine hydroxylase, which leads to the accumulation of phenylalanine and its byproducts in the body, causing neurological damage if not managed properly. Therefore, the correct answer is phenylalanine.

Question 18

Which of the following is the vascular organ that links the fetus to the mother's uterus?
A) the fallopian tube
B) the ovary
C) the placenta
D) the cervix

Accepted Answer

The placenta is the vascular organ that connects the developing fetus with the mother's uterus. It allows for the exchange of nutrients, oxygen, and waste products between the fetus and the mother. The fallopian tube connects the ovary to the uterus but does not play a role in fetal development. The ovary releases an egg during ovulation but is not involved in fetal development. The cervix is the lower part of the uterus that opens into the vagina, but it does not link the fetus to the mother's uterus.

Question 19

________ refers to an abnormally small brain of a fetus that can lead to intellectual disability.
A) Spina bifida
B) Klinefelter syndrome
C) Hemophilia
D) Microencephaly

Accepted Answer

Microencephaly refers to a neurological condition in which the brain is abnormally small, either due to incomplete brain development or loss of brain cells. It can lead to intellectual disability, seizures, delayed physical and cognitive development, and other neurological issues.

Question 20

Mateo, an infant, is on a special diet as his parents are aware that he has a genetic disorder in which he cannot metabolize phenylalanine, an amino acid. Mateo's parents are also aware of the importance of this diet and that excess phenylalanine buildup in the infant will produce intellectual disability and hyperactivity. This genetic disorder results from a
A) dominant gene.
B) recessive gene.
C) complementary gene.
D) longevity gene.

Accepted Answer

This genetic disorder is a recessive inherited condition, meaning that the affected individual must inherit two copies of the mutated gene, one from each parent, in order to display symptoms. If only one parent carries the mutated gene, they are considered a carrier, and if both parents carry the mutated gene, there is a 25% chance of their child being affected by the disorder.

Quiz 2: Biological Beginnings

Which of the following is true of phenylketonuria?

________ is a genetic abnormality in which delayed blood clotting causes internal and external bleeding.

________ uses a powerful magnet and radio images to generate detailed images of the body's organs and structures.

Joshua, a two-year-old, has been diagnosed with ________, a blood disorder that limits the body's oxygen supply and can cause joint swelling and heart and kidney failure. This genetic disorder can be treated through penicillin, pain medication, antibiotics, blood transfusions, and hydroxyurea.

Which of the following is a gene-linked abnormality?

Which of the following would be an appropriate course of treatment for a person diagnosed with cystic fibrosis?

Paul has a gene-linked abnormality, and as a result he suffers from an X-linked inheritance disease. Because of this disease, Paul suffers from internal and external bleeding due to delayed blood clotting. Which of the following will effectively treat Paul's condition?

________ is a gene-linked abnormality in which the central nervous system deteriorates, producing problems in muscle coordination and mental deterioration.

Identify a risk related to the use of chorionic villus sampling (CVS) as a prenatal diagnostic test.

Lindsay's body does not produce enough insulin, causing abnormal metabolism of sugar. She is receiving insulin treatment. Lindsay has

Phenylketonuria (PKU) is a genetic disorder in which an individual cannot properly metabolize ________, an amino acid.

Which of the following is the vascular organ that links the fetus to the mother's uterus?

________ refers to an abnormally small brain of a fetus that can lead to intellectual disability.