Chapter 6 Flashcards
(89 cards)
1
Q
This is a permanent change in the DNA sequence.
A. DNA methylation
B. Histone Modification
C. Genetic mutation
A
C. Genetic Mutation
2
Q
This type of mutation is present throughout all cells of the body.
A. Somatic
B. Germ
C. Sporatic
A
B. Germ
3
Q
This type of mutation is localized to a specific area of cells.
A. Somatic
B. Germ
C. Congenital
A
A. Somatic
4
Q
A disorder, genetic or familial, that is transmitted to offspring
A. Congenital
B. Prenatal
C. Hereditary
A
C. Hereditary
5
Q
All congenital disorders are hereditary. T/F
A
False
6
Q
Which of the following involves the substitution of a single nucleotide base that results in the coding for a stop codon?
A. Frameshift mutation
B. Nonsense mutation
C. Point mutation
A
B. Nonsense mutation
7
Q
Which of the following involves the substitution of a single nucleotide base that results in the coding for a different amino acid?
A. Frameshift mutation
B. Nonsense mutation
C. Point Mutation
A
C. Point mutation
8
Q
Which of the following involves the instertion/deletion of 1 or 2 nucleotides that alters the codon reading area?
A. Frameshift mutation
B. Nonsense mutation
C. Trinucleotide repeat
A
A. Frameshift mutation
9
Q
Which of the following involves the amplification of a 3 nucleotide sequence?
A. Frameshift mutation
B. Nonsense mutation
C. Trinuceotide repeat
A
C. Trinucleotide Repeat
10
Q
Which of the following conditions is an example of a hereditary condition that is not congenital? A. Cleft lip B. Achondroplasia C. Congenital syphilis D. Muscular dystrophy
A
D. Muscular dystrophy
11
Q
Autosomal recessive conditions typically express phenotypic changes in the ______ state.
A. Heterozygous
B. Homozygous
A
B. Homozygous
12
Q
Autosomal dominant conditions need ___ allele change(s) or mutation(s).
A. 1
B. 2
C. 0
A
A. 1
13
Q
Which of the following is the result of a mutation in the FBN1 gene encoding fibrillin?
A. Ehlers-Danlos syndrome
B. Cystic fibrosis
C. Marfan Syndrome
A
C. Marfan Syndrome
14
Q
Fragile X syndrome is associated with which mutation?
A. Nonsense mutation
B. Trinucleotide repeat
C. Frameshift mutation
A
B. Trinucleotide repeat
15
Q
Which area of the body is not commonly affected by Marfan syndrome? A. Hands B. Colon C. Aorta D. Eye
A
B. Colon
16
Q
Which is the most common cause of death among people with Marfan syndrome? A. Accidental Fall B. Blood loss anemia C. Respiratory Infection D. Ruptured aortic aneurysm
A
D. Ruptured aortic aneurysm
17
Q
Which of the following is a result of defective collagen synthesis?
A. Ehlers-Danlos syndrome
B. Cystic Fibrosis
C. Marfan syndrome
A
A. Ehlers-Danlos syndrome
18
Q
Most contortionists are believed to have a form of \_\_\_\_\_\_, which causes hypermobile joints? A. Marfan syndrome B. Phenylketonuria C. Fragile X D. Ehlers-Danlos syndrome
A
D. Ehlers-Danlos syndrome
19
Q
Hypercholesterolemia, caused by impaired LDL transport, is more severe/lethal in __________, and less severe in ________.
A. Heterozygous, Homozygous
B. Homozygous, Heterozygous
A
B. Homozygous, Heterozygous
20
Q
Individuals with Homozygous Hypercholesterolemia commonly die of \_\_\_\_\_\_ before the age of 20. A. Xanthoma B. Aortic dissection C. Myocardial Infarction D. Cerebral Infarction
A
C. Myocardial Infarction
21
Q
Cystic fibrosis is most common among what demographic?
A. African Americans
B. Ashkenazi Jews
C. Caucasians
A
C. Caucasians
22
Q
Cystic Fibrosis is caused by a mutation in what gene?
A. LDLR gene
B. CFTR gene
C. RB gene
A
B. CFTR gene
23
Q
90% of cystic fibrosis patients have ______.
A. infertility
B. Chronic GI infections
C. Pancreatic insufficiency
A
C. Pancreatic insufficiency
24
Q
The CFTR gene, when mutated, will ________.
A. Decrease cholesterol transport
B. Decrease chloride ion absorption
C. Decrease collagen synthesis
A
B. Decrease chloride ion absorption
25
```
Children who lack phenylalanine hydroxylase will develop ________ if untreated in early life and commonly smell musty.
A. Cutaneous xanthomas
B. Cognitive deficit
C. Myocardial infarction
D. Vessel fragility
```
B. Cognitive deficit
26
In adulthood, phenylalanine is less dangerous, except when a woman is pregnant because Phenylalanine is a _______, meaning it can cross the placenta and cause harm to the fetus.
A. Neuortoxic
B. Water soluble
C. Teratogen
C. Teratogen
27
Galactosemia, caused by a mutated GALT gene, can be treated by ________.
A. GALT enzyme replacement
B. Lactose-free diet
C. nothing, its fatal
B. Lactose-free diet
28
Treatment of galactosemia may prevent many of the pathological effects of the condition, but _______ disorders may remain.
A. Cutaneous
B. Cardiac
C. Speech
C. Speech
29
Which patient population is most likely to be impacted by a lysosomal storage disease?
A. Infants
B. Adolescents
C. Elderly
A. Infants
30
Which condition involves the accumulation of Gm2 gangliosides within neurons and results in cognitive deficits?
A. Galactosemia
B. Tay-Sachs disease
C. Gaucher disease
B. Tay-Sachs disease
31
This disease is causes a Cherry Red Macula and commonly affects Ashkenazi Jews.
A. Niemann-Pick disease
B. Gaucher disease
C. Tay-Sachs disease
C. Tay-Sachs Disease
32
Which disease is not an enzyme deficiency?
A. Tay-Sachs
B. Niemann-Pick disease, Type A and B
C. Niemann-Pick disease, Type C
C. Niemann-Pick disease, Type C
33
Which of the following causes hepatosplenomegaly, osteolysis, Erlenmeyer Flask deformity, and pancytopenia?
A. Gaucher disease
B. Mucopolysaccharidosis
C. Niemann-Pick disease, Type C
A. Gaucher disease
34
Which of the following conditions commonly manifests with coarse facial features and corneal clouding?
A. Tay-Sachs disease
B. Niemann-Pick disease, Type C
C. Mucopolysaccharidosis
C. Muchopolysaccharidosis
35
```
The two forms of Mucopolysaccharidosis are different in the way they are inherited; Hurler syndrome is ______ and Hunter Syndrome is _______.
A. X-linked, Autosomal Dominant
B. X-linked, Autosomal Recessive
C. Autosomal recessive, X-linked
D. Autosomal Dominant, X-linked
```
C. Autosomal recessive, X-linked
36
Mucopolysaccharidosis causes ______ to accumulate.
A. GAGs
B. Lipids
C. Mucus
A. GAGs
37
von Gierke disease is a ______ of glycogen storage disease.
A. Hepatic type
B. Myopathic type
C. Cardiac type
A. Hepatic type
38
McAdle disease, a glycogen storage disease, usually presents with fairly mild, except in the case of _______, which can cause life-threatening kidney failure.
A. Glomerulonephritis
B. Rhabdomyolysis
C. Nephromegaly
B. Rhabdomyolysis
39
Which glycogen storage disease manifests with cardiomegaly that may progress to cardiorespiratory failure?
A. von Gierke disease
B. McAdle disease
C. Pompe disease
C. Pompe disease
40
```
When genetic material is transferred from part of 1 chromosome to another it is termed a ________.
A. Aneuploidy
B. Isochromosome
C. Translocation
D. Inversion
```
C. Translocation
41
Additional genetic material produces more severe defects than does loss of genetic material. T/F
False
42
Most chromosomal disorders are inherited disorders. T/F
False
43
Allosomal abnormalities are generally less severe than autosomal abnormalities. T/F
True
44
Which disorder is caused by a Trisomy of chromosome 18 and manifests with cognitive, cardiac, and renal issues?
A. Patau syndrome
B. Turner syndrome
C. Edwards syndrome
C. Edwards syndrome
45
Which disorder is caused by a trisomy of chromosome 13 and manifests with cardiac and renal issues and is usually lethal by age 1?
A. Patau syndrome
B. Edwards syndrome
C. Cri du chat syndrome
A. Patau syndrome
46
Which disorder is caused by a fragmented 5th chromosome and causes cognitive and motor dysfunction and can lead to problems swallowing?
A. Edwards syndrome
B. Cri du chat syndrome
C. Patau syndrome
B. Cri du chat syndrome
47
Trisomy 21 icauses what disorder?
Down Syndrome
48
What are the three causes of trisomy 21?
nondisjunction
robersonian translocations
mosaics
49
High maternal age is associated with which genetic change?
A. Isochromosomes
B. Deletions
C. Nondisjunction
C. Nondisjunction
50
Virtually all patients with trisomy 21 older than 40 years of age develop neuropathic changes associated with _______.
A. Amyotrophiic lateral sclerosis
B. Huntington disease
C. Alzheimer disease
C. Alzheimer disease
51
Doctors of chiropractic should be aware that patients with trisomy 21 may manifest with ________.
A. Aggressive behavior
B. Atlanto-axial instability
C. Hypermobility
B. Atlanto-axial instability
52
Which of the following is the most common chromosomal disorder?
A. Turner syndrome
B. Down syndrome
C. Edward syndrome
B. Down syndrome
53
22q11.2 deletion syndrome can be highly variable, but can cause ________.
A. Epicanthic folds
B. Microcephaly
C. Hypocalcemia
C. Hypocalcemia
54
What disorder is most commonly associated with XXY genotype, and manifests with sterility, gynocomastia, and possible cognitive impairment?
A. Turner Syndrome
B. Klinefelter Syndrome
C. Edward Syndrome
B. Klinefelter syndrome
55
What is the most common cause of male hypogonadism and sterility?
Klinefelter syndrome
56
XXY genotype is associated with what risk factor?
A. Maternal smoking
B. Maternal age
C. Robertsonian translocations
B. Maternal Age (nondisjunction)
57
Turner syndrome is caused by the ______ of an X chromosomes.
A. Addition
B. Deletion
C. Inactivation
B. Deletion
58
Which disorder manifests with amenorrhea, neck webbing and cardiovascular malformations?
A. Turner Syndrome
B. Klinefelter Syndrome
C. Edward Syndrome
A. Turner Syndrome
59
"Familial Mental Retardation" is associated with which single gene disorder?
A. Tay-Sachs Disease
B. Fragile X Syndrome
C. Edward Syndrome
B. Fragile X Syndrome
60
Fragile X is caused by what genetic change?
A. Robertsonian Translocation
B. Isochromosomes
C. Trinucleotide Repeat
C. Trinucleotide repeat
61
Leber Hereditary Optic Neuropathy is an example of what type of disorder?
A. Mitochondrial Disorder
B. Epigenetic imprinting
C. Allosomal Disorder
A. Mitochondrial Disorder
62
Genomic imprinting of the paterntal chromosome and deletion of the maternal chromosome causes which syndrome?
A. Leber Hereditary Optic Neuropathy
B. Angelman Syndrome
C. Prader-Willi Syndrome
B. Angelman Syndrome
63
Angelman syndrome can manifest as cognitive deficit, seizures, inappropriate laughter and affection for _____.
Water
64
Maternal imprinting and paternal deletion can cause which syndrome?
A. Leber Hereditary Optic Neuropathy
B. Angelman Syndrome
C. Prader-Willi Syndrome
C. Prader-Willi Syndrome
65
Prader-Willi is characterized by what symptom?
Hyperphagia (overeating)
66
The most common cause of death among individuals between the ages of 1-14 years is _________.
A. Congenital Malformation
B. Malignant neoplasm
C. Accidents
C. Accidents
67
Transcervical infections are spread through _________ and can be caused by common STIs like Gonorrhea and Chlamydia.
A. Vaginal Exposure
B. Placenta
C. Maternal blood
A. Vaginal Exposure
68
Transplacental infections are spread through the placenta and can be categorized by the anagram _____.
TORCH
69
TORCH infections:
```
Toxoplasma gondii
Other: HIV, HBV etc
Rubella virus
CMV
HSV
```
70
Intrauterine constraint is an example of which error in morphogenesis?
A. Malformation
B. Disruption
C. Deformation
C. Deformation
71
Most common cause of infant morality is ______.
A. Low birth weight disorders
B. Sudden infant death syndrome
C. Accidents
D. Congenital or chromosomal abnormalities
D. Congenital or chromosomal abnormalities
72
Respiratory distress syndrome, necrotizing enterocolitis, and sepsis are all conditions associated with _______.
A. Gestational diabetes
B. Prematurity
C. Female infants
B. Prematurity
73
Surfactant is produced by which cells?
A. Type I Pneumocytes
B. Type II Pneumocytes
C. Type III Pneumocytes
B. Type II Pneumocytes
74
```
Recovery begins within ________ in uncomplicated cases of neonatal respiratory distress syndrome with management.
A. 6 hours
B. 3-4 days
C. 1-2 weeks
D. 1 month
```
B. 3-4 days
75
Neutrophils are commonly associated with the formation of hyaline membranes in infants with respiratory distress syndrome. T/F
False
76
Disease associated with prematurity in which the the GI tract is broken down is called ________.
Necrotizing Enterocolitis
77
SIDS risk is increased by:
A. Prone sleeping
B. Back sleeping
A. Prone sleeping
78
```
In most SIDS cases, the infant is younger than ______.
A. 2 years
B. 1 year
C. 6 months
D. 1 month
```
C. 6 months
79
```
Which of the following is the most likely to be lethal?
A. Hemangioma
B. Lymphangioma
C. Hydrops fetalis
D. Cystic hygroma
```
C. Hydrops fetalis
80
Type of Erythroblastosis fetalis that is more common and more severe?
A. ABO incompatibility
B. Rh incompatibility
A. ABO incompatibility
81
Kernicterus is characterized by which symptom?
A. Edema
B. Widespread bleeding
C. Jaundice
C. Jaundice
82
```
Which of the following is the most common among infants?
A. Neuroblastoma
B. Hemangioma
C. Lymphangioma
D. Sacrococcygeal teratoma
```
B. Hemangioma
83
```
Which tumor of infancy may develop in the adrenal medulla and is likely to secrete catecholamines?
A. Teratoma
B. Neuroblastoma
C. Lymphagioma
D. Homor-Wright Syndroma
```
B. Neuroblastoma
84
```
Which of the following is most likely to suggest that a 3-year-old has an undiagnosed neuroblastoma?
A. Loss of vision
B. Inability to walk
C. Bone pain
D. Failure to speak
```
C. Bone pain
85
Most cases of Retinoblastoma are _____ mutations of the RB gene.
A. genetic
B. sporadic
B. Sporadicc
86
```
A patient with a "cat's eye reflex" may be suspected of having which condition?
A. Hemangioma
B. Lymphangioma
C. Retinoblastoma
D. Nephroblastoma
```
C. Retinoblastoma
87
```
Which of the following involves aniridia, genital abnormalities, and Wilms tumor?
A. Hemangioma
B. Lumphangioma
C. Retinoblastoma
D. Nephroblastoma
```
D. Nephroblastoma
88
```
Flexner-Wintersteiner rosettes are a characteristic finding of condition?
A. Teratoma
B. Neuroblastoma
C. Retinoblastoma
D. Wilms tumor
```
C. Retinoblastoma
89
Prenatal genetic analysis is most commonly done by which procedure?
A. Blood draw
B. Amniocentesis
B. Amniocentesis
