Organ Pathology - Handout 1 - Genetics And Teratogens | Attempts: 223

2.

G6P Dehydrogenase deficiency is a disease with a(n) ____________ inheritance pattern

X-Linked Dominant
Y-Linked
Chromosome 12 Recessive
X-Linked Recessive

Correct Answer

A. X-Linked Recessive

Explanation

She emphasized this in class so might be good to know it. Color blindness is also X-Linked Recessive

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3.

Translation occurs when DNA becomes mRNA, transcription occurs when mRNA becomes a protein

True
False

Correct Answer

A. False

Explanation

Opposite

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4.

Which of the following are true regarding Down Syndrome (select 2)

It is a trisomy of the 21st chromosome
It is a trisomy of the 18th chromosome
A hallmark symptom is a big, wrinkled tongue
An exclusive trait is mental retardation
A Down syndrome patient only has 1 X chromosome

Correct Answer(s)

A. It is a trisomy of the 21st chromosome
A. A hallmark symptom is a big, wrinkled tongue

Explanation

Mental retardation is a trait but it is not exclusive to Down syndrome.

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5.

Which of the following is true regarding albinism?

Its disease originates on chromosome 15
It is caused by a deficiency of N-acetyalhexoaminidase
The patient is unable to convert tyrosine to DOPA
An albino must have a low protein diet to prevent mental retardation

Correct Answer

A. The patient is unable to convert tyrosine to DOPA

Explanation

Albinism is a genetic disorder that affects the production of melanin, the pigment responsible for the color of the skin, hair, and eyes. The patient with albinism lacks the enzyme called tyrosinase, which is responsible for converting tyrosine to DOPA, an important step in the production of melanin. This results in a reduced or complete absence of melanin in the body, leading to the characteristic features of albinism such as pale skin, white hair, and light-colored eyes.

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6.

Your friend smells like your lab mice and he tells you he can't eat beans, meat, and most dairy. You conclude he has

Albinism
A disease with the inability to digest phenylalanine
Too much phenylalanine hydroxylase
A disease originating on chromosome 7

Correct Answer

A. A disease with the inability to digest phenylalanine

Explanation

He has PKU. Which is a deficiency of phenylalanine hydroxylase originating on chromosome 12

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7.

Your female patient has Leber's disease. Which of the following family members would also have the disease? (Select 3)

The patients mother
The patient's father
The patient's grandfather
The patient's daughter
The patient's brother

Correct Answer(s)

A. The patients mother
A. The patient's daughter
A. The patient's brother

Explanation

Leber's is a maternal inheritance disease. So she will have gotten it from her mother along with the rest of her siblings, and all of her children will have it too.

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8.

In which scenario is a teratogenic effect going to be most dramatic?

During migration
During cell death
During rapid cell differentiation
After birth

Correct Answer

A. During rapid cell differentiation

Explanation

During rapid cell differentiation, the teratogenic effect is going to be most dramatic. This is because during this stage, cells are rapidly dividing and transforming into different specialized cell types. Any disruption or interference caused by teratogens can have a profound impact on the development and organization of these cells, leading to severe abnormalities or malformations in the developing organism.

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9.

Which of the following is true regarding fetal alcohol syndrome (Select 2)

Alcohol is absorbed by the baby's bloodstream and impairs development by switching DNA base pairs
The high metabolic demand of alcohol decreases the oxygen available to the fetus
It requires large doses of alcohol to occur
A distinguishing feature is a newborn with an indistinct philtrum

Correct Answer(s)

A. The high metabolic demand of alcohol decreases the oxygen available to the fetus
A. A distinguishing feature is a newborn with an indistinct philtrum

Explanation

Fetal alcohol syndrome is a condition that occurs when a pregnant woman consumes alcohol, which can lead to various developmental issues in the fetus. One true statement regarding fetal alcohol syndrome is that the high metabolic demand of alcohol decreases the oxygen available to the fetus. Alcohol metabolism requires oxygen, and when alcohol is present in the bloodstream, it competes with the fetus for oxygen, leading to reduced oxygen supply to the developing baby. Another true statement is that a distinguishing feature of fetal alcohol syndrome is a newborn with an indistinct philtrum, which is the vertical groove between the nose and upper lip.

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10.

Which of the following are true regarding smoking during pregnancy? (Select 2)

Smoking causes constriction of blood vessels and reduced blood flow (and nutrients) to the uterus
Smoking causes vasodilation and nutrient transfer to the fetus is normal, however oxygen is low
Smoking raises the concentration of carbon monoxide in mother and fetus bloodstream
Nicotine does not cross the placental barrier

Correct Answer(s)

A. Smoking causes constriction of blood vessels and reduced blood flow (and nutrients) to the uterus
A. Smoking raises the concentration of carbon monoxide in mother and fetus bloodstream

Explanation

Nicotine does cross the placental barrier since the concentration in the fetus' blood is elevated.

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Organ Pathology - Handout 1 - Genetics And Teratogens

Which of the following diseases has an autosomal dominant inheritance pattern?

Quiz Preview

G6P Dehydrogenase deficiency is a disease with a(n) ____________ inheritance pattern

Translation occurs when DNA becomes mRNA, transcription occurs when mRNA becomes a protein

Which of the following are true regarding Down Syndrome (select 2)

Which of the following is true regarding albinism?

Your friend smells like your lab mice and he tells you he can't eat beans, meat, and most dairy. You conclude he has

Your female patient has Leber's disease. Which of the following family members would also have the disease? (Select 3)

In which scenario is a teratogenic effect going to be most dramatic?

Which of the following is true regarding fetal alcohol syndrome (Select 2)

Which of the following are true regarding smoking during pregnancy? (Select 2)