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 Several generations of affected members
B Many consanguineous relationships
C More members of the maternal lineage affected than paternal More
D members of the paternal lineage affected than maternal
7. In autosomal recessive (AR) disorders, individuals need:
A Only one mutated gene on the sex chromosomes to acquire the d isease
B Only one mutated gene to acquire the disease
C Two mutated genes to acquire the disease
D Two mutated genes to become carriers
8. In autosomal recessive disorders, carriers have:
A Two mutated genes; one from each parent that cause di sease
B A mutation on a sex chromosome that causes a disease
C A single gene mutation that causes the disease
One copy of a gene mutation but not the disease
D

9.With an autosomal recessive disorder, it is important that parents understand that if they both carry a
mutation, the following are the risks to each of their offspring (each pregnancy):
A 50% chance that offspring will carry the dise ase
B 10% chance of offspring affected by disease 25%
C chance children will carry the disease 10% chance
D children will be disease free

10. A woman with an X-linked dominant disorder will:

A Not be affected by the disorder herself

B Transmit the disorder to 50 % of her offspring (male or fe male)
C Not transmit the disorder to her daughters
D Transmit the disorder to only her daughters

11.In creating your female patient’s pedigree, you note that she and both of her sisters were affected by the same genetic
disorder. Although neither of her parents had indications of the disorder, her paternal grandmother and her paternal
grandmother’s two sisters were affected by the same condition. This pattern suggests:

A Autosomal dominant disord er

B Chromosomal disorder r X-
C
D Mitochondrial DNA disorde
12. linkedAdominant disorderwith an X-linked recessive disorder:
woman affected

A Has one X chromosome affected by the mutation

B Will transmit the disorder to all of her children
C Will transmit the disorder to all of her sons
Will not transmit the mutation to any of her daughters
D
13. Which of the following are found in an individual with aneuploidy?

A An abnormal number of chromosomes

B An X-linked disorder
C Select cells containing abnormal-appearing chromos omes
D An autosomal recessive disorder
14. The pedigree of a family with a mitochondrial DNA disorder is unique in that:

A None of the female offspring will have the disease

B All offspring from an affected female will have disease
C None of the offspring of an affected female will have the d isease
D All the offspring from an affected male will have disease
15. Which population is at highest risk for the occurrence of aneuploidy in offspring?
 A Mothers younger than 1 8
B Fathers younger than 1 8
C Mothers over age 35
D Fathers over age 35
16. Approximately what percentage of cancers is due to a single-gene mutation?50% to 70%
A 30% to 40%
B 20% to 25%
5% to 10%
C
D

17. According to the Genetic Information Nondiscrimination Act (GINA):

A NPs should keep all genetic information of patients confidential

B NPs must obtain informed consent prior to genetic testing of all p atients Employers
C cannot inquire about an employee’s genetic information
D All of the above
18. The leading causes of death in the United States are due to:
A Multifactorial inheritan ce
B. Single gene mutations
C. X-linked disorders
D Aneuploidy
19. Which of the following would be considered a “red flag” that requires more investigation in a patient

assessment?
A Colon cancer in family member at age 70
B Breast cancer in family member at age 75 Myocardial
C infarction in family member at age 35 All of the above
D
20. When patients express variable forms of the same hereditary disorder, this is due to:
A Penetrance
B Aneuploidy
C De novo mutation
D Sporadic inheritanc
e

21. Your 2-year-old patient shows facial features, such as epicanthal folds, up-slanted palpebral fissures, single
transverse palmar crease, and a low nasal bridge. These are referred to as:
A Variable expressivity related to inherited disease
B Dysmorphic features related to genetic disease
C De novo mutations of genetic disease
D Different penetrant signs of genetic disease
22. In order to provide a comprehensive genetic history of a patient, the NP should:

A Ask patients to complete a family history worksheet

B Seek out pathology reports related to the patient’s dis order Interview
C family members regarding genetic disorders
D All of the above
Answer Section
MULTIPLE CHOICE

1. ANS: A
A critical first step in genomic assessment, including assessment of risk, is the use of family history. Family history
is considered the first genetic screen (Berry & Shooner 2004) and is a critical component of care because it reflects
shared genetic susceptibilities, shared environment, and common behaviors (Yoon, Scheuner, & Khoury 2003).

2. ANS: D

A proband is defined as the affected individual who manifests symptoms of a particular condition through whom a
family with a genetic disorder is ascertained (Pagon et al. 1993–2013). The proband is the affected individual
that brings the family to medical attention.

3.ANS:D
Autosomal dominant (AD) inheritance is a result of a gene mutation in one of the 22 autosomes.

4. ANS: C

A consanguineous family is related by descent from a common ancestry and is defined as a

“union between two individuals who are related as second cousins or closer” (Hamamy 2012). Consanguinity, if
present in the family history, is portrayed using two horizontal lines to establish the relationship between the
male and female partners.

5. ANS: B
For adopted members of the family, use brackets as the appropriate standardized pedigree symbol ([e.g.,
brackets]).

6. ANS: A

Pedigrees associated with autosomal dominant (AD) disorders typically reveal multiple affected family members
with the disease or syndrome. When analyzing the pedigree for AD disorders or syndromes, it is common to see a
“vertical” pattern denoting several generations of affected members.

7. ANS: C
In autosomal recessive (AR) disorders, the offspring inherits the condition by receiving one copy of the gene
mutation from each of the parents. Autosomal recessive disorders must be inherited through both parents (Nussbaum
et al. 2007). Individuals who have an AR disorder have two mutated genes, one on each locus of the chromosome.
Parents of an affected person are called carriers because each carries one copy of the mutation on one chromosome
and a normal gene on the other chromosome. Carriers typically are not affected by the disease.
8. ANS: D
Individuals who have an AR disorder have two mutated genes, one on each allele of the

chromosome. Parents of an affected person are called carriers because each parent carries one copy of the mutation
on one chromosome and a normal gene on the other chromosome. Carriers typically are not affected by the disease.
In pedigrees with an AR inheritance patterns, males and females will be equally affected because the gene mutation
is on an autosome.

9. ANS: A
It is important that parents understand that if they both carry a mutation, the risk to each of their offspring (each
pregnancy) is an independent event: 25% disease free, 25% affected, and 50% carrier.
10. ANS: B
Everyone born with an X-linked dominant disorder will be affected with the disease. Transmission of the
disorder to the next generation varies by gender, however. A woman will transmit the mutation to 50% of all her
offspring (male or female).
11. ANS: D
A man with an X-linked dominant disorder will transmit the mutation to 100% of his daughters
(they receive his X chromosome) and none of his sons (they receive his Y chromosome). The
pedigree of a family with an X-linked dominant disorder would reveal all the daughters and none
of the sons affected with the disorder if the father has an X-linked disorder.
12. ANS: C
An X-linked recessive disorder means that in a woman, both X chromosomes must have the
mutation if she is to be affected. Because males have only one copy of the X chromosome, they
will be affected if their X chromosome carries the mutation.
13. ANS: A
An individual with an abnormal number of chromosomes has a condition called aneuploidy,
which is frequently associated with mental problems or physical problems or both (Jorde, Carey,
& Bamshad 2010; Nussbaum et al. 2007).
14. ANS: B
Mitochondrial DNA is inherited from the ovum and, therefore, from the mother. The pedigree of
a family with a mitochondrial DNA disorder is unique in that all offspring (regardless of gender)
of an affected female will have the disease, and none of the offspring from an affected male will
have the disease.
15. ANS: C
Some individuals or couples have unique identifiable risks that should be discussed prior to conception whenever
possible. For example, women who will be 35 years of age or older at delivery (advanced maternal age) are at
increased risk for aneuploidy.
16. ANS: D
The majority of cancers are sporadic or multifactorial due to a combination of genetic and environmental factors;
however, approximately 5% to 10% of all cancers are due to a single-
gene mutation (Garber & Offit 2005).
17. ANS: D
On May 21, 2008, President George W. Bush signed the Genetic Information Nondiscrimination
Act (GINA) to protect Americans against discrimination based upon their genetic information
when it comes to health insurance and employment, paving the way for patient personalized
genetic medicine without fear of discrimination (National Human Genome Research Institute
2012).
18. ANS: A
Most disease-causing conditions are not due to a single-gene disorder but are due to multifactorial
inheritance, a result of genomics and environmental or behavioral influences. In fact, the leading
causes of mortality in the United States—heart disease, cerebrovascular disease, diabetes, and cancer—are all
multifactorial. Most congenital malformation, hypertension, arthritis, asthma, obesity, epilepsy, Alzheimer’s, and mental
health disorders are also multifactorial.

19. ANS: C
Early onset cancer syndromes, heart disease, or dementia are red flags that warrant further investigation regarding
hereditary disorders.
20. ANS: A
Some disorders have a range of expression from mild to severe. This variability is referred to as

the penetrance of genetic disease. For example, patients with neurofibromatosis (NF1), an AD disorder of the
nervous system, may manifest with many forms of the disease. For instance, some patients with NF1 may have mild
symptoms, like café-au-lait spots or freckling on the axillary or
skin, while others may have life-threatening spinal cord tumors or malignancy (Jorde, Carey, & Bamshad 2010;
Nussbaum et al. 2007).

21. ANS: B
Assessing for dysmorphic features may enable identification of certain syndromes or genetic or chromosomal
disorders (Jorde, Carey, & Bamshad 2010; Prichard & Korf 2008). Dysmorphology is defined as “the
study of abnormal physical development” (Jorde, Carey, & Bamshad 2010, 302).
22. ANS: D
Asking the patient to complete a family history worksheet prior to the appointment saves time in the visit while
offering the patient an opportunity to contribute to the collection of an accurate family history. Reviewing the
family information can also help establish family rapport while verifying medical conditions in individual family
members. If a hereditary condition is being considered but family medical information is unclear or unknown,
requesting medical records and pathology or autopsy reports may be warranted.
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 CHAPTER XVI.

THE GAUNTLET RUN.

With his bride up behind him on his horse, the rover spurred
swiftly away from the parson’s, still within the hour, in which he had
promised to return to his wedding. Unafraid of whatsoever the world,
before or behind, might contain, while her lover-husband lived at her
side, Garde felt a sense of exhilaration, at leaving Boston, such as
she had never known in all her life.
With her grandfather dead and Goody no longer at the little
cottage on the skirts of town, she had no ties remaining, save those
at the houses of Soam and Phipps. And what were these, when
weighed in the balance against Adam Rust—her Adam,—her mighty
lord?
Trembling and clinging as she was, he had carried her off. Gladly
she had gone to the parson’s. Her heart now rejoiced, as he told her
that Massachusetts was behind them forever. For its people, with
their harsh, mirthless lives of austerity and fanaticism, she had only
love enough to give them her pity. But her life was life indeed, when,
ever and anon, Adam halted the horse, lest she fear a fall, and
twisted about to give her a kiss and a chuckle of love and to tell of
the way he had cheated the mob and the court of their witches.
“Make no doubt of it, you are a witch—one of the sweetest,
cleverest, bravest, most adorable little witches that ever lived,” he
said, “and I love you and love you for it, my darling wife!”
 They had left the town early in the morning. By break of day they
were not so far from Boston as Adam could have wished. The horse
had been wearied by carrying double, when he conveyed Goody
Dune to a place of safety,—so that the old woman could
subsequently join himself and Garde in New Amsterdam,—and
therefore he had halted the animal humanely, from time to time, as
the load under which the good beast was now working was not a
trifle.
Having avoided the main road, for the greater part of the
remaining hours of darkness, Adam deemed it safe at last to return
to the highway, as he thought it unlikely they had been pursued
under any circumstances. Thus the sun came up as they were
quietly jogging along toward a copse of trees through which the road
went winding with many an invitation of beauty to beckon them on.
Crossing a noisy little brook, the rover permitted the horse to stop
for a drink. Not to be wasting the precious time, Adam turned himself
half way around in the saddle, as he had done so frequently before,
and gave his bride a fair morning salute.
He had then barely ridden the horse a rod from the stream, when,
without the slightest warning, the figure of Gallows, mounted on a
great black steed, suddenly broke from cover among the trees and
bore down upon them.
The great hulk, sword in hand, made a quick dash toward the
defenceless two, and slashed at Garde with all his fearful might.
Jerking his horse nearly out of the road, Adam swung from the line
of the brute’s cowardly stroke, yet before he could do aught to
prevent it, Gallows righted, flung out his leaden fist and dragged the
girl fairly off from her seat, till she struck on the back of her head,
among the rocks of the road, and lay there unconscious, and almost
beneath the tread of the horse’s prancing feet.
Then the monster spurred at his horse and turning him back, rode
to drive him madly over the prostrate form in the dust.
Making a short, sharp cry of anger, Adam whipped out his sword
and dashed upon the murderous butcher before he could get within
fifteen feet of Garde, where she lay in the sunlight.
Gallows had plenty of time to see him coming. The two met in a
tremendous collision of steel on steel that sounded a clangor through
the woods and sent the two swords flying from their owners’ grips.
Disarmed, the pair thudded together in a swift and hot embrace,
sawing their horses close in, the more firmly and straight erect to
hold their seats.
“You be a fool and I be the fool-killer!” roared Gallows, hoarsely.
He tugged with his giant strength, to drag Adam fairly across to his
own big saddle, where he could either break his back or beat him to
death with the butt of a pistol, which he was trying to draw with the
hand that held the reins.
Slipping his wrist under the chin and his hand around to the
fellow’s massive shoulder, Adam tilted back the heavy head with a
force so great that Gallows was glad to release his hold, else he
would surely have toppled from his perch.
The horses leaped a little apart. Back their riders jerked them.
Again the two big human forms shot together, and clung in a fierce
embrace, like two massive chunks of iron, welded together by their
impact. Once more Gallows used his great brute strength, while Rust
employed his wit and got his same terrible leverage on the monster’s
neck.
For a moment Gallows fought to try to break the hold, and to drag
his opponent headlong from his horse, by kicking Adam’s animal
stoutly in the flank. But Adam was inflicting such an agony upon him
as he could not endure. They broke away, only to rush for the third
time, back to this giant wrestling.
“The fool will never learn. I shall kill him yet!” cried Rust to himself,
for he went for Gallows’s neck as before and got it again in his hold.
He threw a tremendous strength into the struggle. Gallows let out
a bellow. Releasing the reins, he threw both his arms about his foe
and deliberately fell from his seat, with the intention of crushing Rust
beneath his weight, on the ground.
 Adam’s turn in the air was the work of the expert wrestler. The
horses shied nervously away.
The two were up on their feet and telescoped abruptly in one
compact, struggling mass, as if two malleable statues of heroic size
had suddenly been bent and intertwisted together.
With his ox-like force Gallows began to force Adam backward.
Adam let him expend himself in this manner for a moment. He then
discovered the great hulk’s design. He meant to force the rover to
where Garde was still lying, and so to trample upon her till the life
should be stamped and ground from her helpless form.
Randolph had sent him to commit this final infamy.
The rage that leaped up in Adam’s breast was a terrible thing. He
feinted to drop as if in exhaustion. Gallows loosened his hold to
snatch a better one, at once. In that second Adam dealt him a blow
in the stomach that all but felled him where he stood.
Before he could straighten to recover, Rust was upon him like a
tiger. Getting around the great brute’s side, he threw both hands
around the short, thick neck and twisted himself into position so that
he and Gallows were placed nearly back to back. Then with one
movement he lifted at the man’s whole weight, with the monster’s
head as a lever, hauled fiercely backward. Into the action he threw
such a mighty rush of strength that Gallows was hoisted bodily off
the ground, for a second, and then his neck gave forth a tremendous
snap and was broken so fearfully that one of the jagged ends of a
vertebra stabbed outward through the flesh, and dripped with red.
The whole dead weight of the fellow’s carcass rested for a second
on Rust’s back and shoulder, and then Adam let him fall to the
ground, where, like a slain hog, he rolled heavily over and moved no
more.
Panting, fierce-eyed, ready to slay him again, Adam stood above
the body for a moment, his jaws set, his fists clenched hard in the
rage still upon him.
Then he heard a little moan, and turning about saw Garde,
attempting to raise herself upward, in the road. He ran to her
instantly and propped her up on his knee.
“Dearest, dearest,” he said, “are you badly hurt? Garde, let me
help you. Don’t look—don’t look there. It’s all right. Here, let me get
you back to the shade.”
He took her up tenderly in his arms and carried her out of the road
to a near-by bank of moss. Here he sat her down, with her back to a
tree, and ran to fill his hat with water from the stream.
The two horses, having stopped to take a supplementary drink,
and a nibble at the grass, were easily caught. The rover secured
them both and tied them quickly to a bush, with the dragging reins.
Then back to Garde he ran with the water.
“Oh, thank you, dear,” she said, “I don’t think I am hurt. But with
the fright, and the fall, I think I must have fainted.”
“Thank God!” said Adam, as she drank from his hat and smiled in
his face, a little faintly, but with an infinite love in her two brown eyes.
“Thank God, for this delivery. There will be no more trouble. I feel it! I
know it. At last we have run the gauntlet.”
 CHAPTER XVII.

BEWITCHED.

In his tidy little house in New Amsterdam, Adam sat reading a

letter from Governor William Phipps, written at Boston.

“I forgyve you yr merrie empersonashun and all ye other things alsoe,

save ye going away without goode-bye,” he read, “but let it pass. I wd
write to say God Blesse you bothe. And as I have never known such a
goode blade as yrs in fight, I wd offer you to make you my commander of
ye forces to goe in war against ye French, where they do threat to
harasse our peeple as of yore——”

Adam halted here and looked up at the battered old sword on the
wall. His thought went truant, to his helpmate, away for a few
minutes’ walk to Goody Dune’s. He shook his head at the Governor’s
generous offer.
“Well, well, William,” he said aloud, “I don’t know. I don’t know
what may be the matter, but—no more fighting for me, old comrade. I
think it must be that I—am bewitched.”

THE END.
Transcriber’s Notes:
Missing or obscured punctuation was silently
corrected.
Typographical errors were silently corrected.
Inconsistent spelling and hyphenation were
made consistent only when a predominant form
was found in this book.
*** END OF THE PROJECT GUTENBERG EBOOK WHEN A
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