Review questions chapter 6 Flashcards

1
Q

All congenital disorders are hereditary

A

False

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2
Q

These types of disorders are derived from ones parents (common names none specific)

A

Familial/Hereditary

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3
Q

These disorders are typically present at birth

A

Congenital

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4
Q

What involves the substitution of a single nucleotide base that results in the coding for
a stop codon?

A

Point mutations

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5
Q

These mutations mutations interrupt translation, and in most cases RNAs are rapidly degraded, a phe- nomenon called nonsense mediated decay, such that little or no protein is formed.

A

Nonsense

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6
Q

These mutations occur when the insertion or deletion of one or two base pairs alters the reading frame of the DNA strand.

A

Frameshift mutations

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7
Q

These mutations belong to a special cate- gory, because these mutations are characterized by amplification of a sequence of three nucleotides.

A

Trinucleotide repeat mutations

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8
Q

Which of the following conditions is an example of a hereditary condition that is not congenital?

A

Muscular dystrophy

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9
Q

Autosomal recessive conditions typically express phenotypic changes in the ___________ state.

A

Homozygous

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10
Q

What are the chances of an offspring of two parents, whom are both heterozygote asymptomatic for a disorder, to be affected or present said disease?

A

25%

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11
Q

Which of the following is the result of a mutation in the FBN1 gene encoding fibrillin?

A

Marfan syndrome

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12
Q

________are a group of diseases characterized by defects in collagen synthesis or structure.

A

Ehler Danlos

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13
Q

These are the most common variants of Ehler Danlos

A

Deficiency of the enzyme lysyl hydroxylase., Deficient synthesis of type III collagen resulting from muta- tions affecting the COL3A1 gene., and Deficient synthesis of type V collagen due to mutations in COL5A1 and COL5A2

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14
Q

What is the most common familial disorder?

A

Familial hypercholesterolemia

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15
Q

Which area of the body is not commonly affected by Marfan syndrome?

A

Colon

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16
Q

Death from a(n) __________ is the most common cause of death among individuals with Marfan
syndrome. (

A

Aortic rupture/ Ruptured aortic aneurysm

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17
Q
Isaiah	Austin	(shown	to	the	right)	was	unable	to	play	in	the	NBA	because	he	was	diagnosed	
with	\_\_\_\_\_\_\_\_,	which	increases	the	risk	of	ectopia	lentis	and	a	lethal	aortic	dissection.
A

Marfan syndrome

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18
Q

Most contortionists are believed to have a form of _____________.

A

Ehler Danlos

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19
Q

______is the most common lethal genetic disease that affects white populations. This disease is also Autosomal recessive

A

Cystic Fibrosis

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20
Q

Familial hypercholesterolemia involves a mutation in the LDLR gene and is present in 1 out of every
______ individuals.

A

500

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21
Q

Individuals that are homozygous for familial hypercholesterolemia commonly die of _________ before
the age of 20 years.

A

Myocardial infarction

Homozygotes have a greater risk

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22
Q

Children who lack phenylalanine hydroxylase will develop _________ if untreated early in life.

A

Mental Retardation

Phenylketonuria symptom

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23
Q

Treatment of galactosemia may prevent many of the pathological effects of the condition, but ______
disorders may remain

A

Speech

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24
Q

Which patient population is most likely to be impacted by a lysosomal storage disease?

A

Infants and young children

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25
Which condition involves the accumulation of GM2 gangliosides within neurons and results in mental retardation?
Tay Sachs
26
_____results from mutation in the gene that encodes glucocerebrosidase and is also cause by activation of macrophages
Gaucher disease
27
______ an autosomal recessive disorder of galac- tose metabolism that affects 1 in 60,000 live-born infants. The liver, eyes, and brain bear the brunt of the damage in this disease
Galactosemia
28
______ has hepatomegaly as a common symptom
Galactosemia
29
Which of the following conditions commonly manifests with results in coarse facial features and corneal clouding?
Mucopolysaccharidosis
30
this disease manifests in childhood and is marked by ataxia, verti- cal supranuclear gaze palsy, dystonia, dysarthria, and psy- chomotor regression.
Niemann pick Type C
31
____ and ____ disease are related enti- ties characterized by a primary deficiency of acid sphingo- myelinase and the resultant accumulation of sphingomyelin. Death is usually around the age of 3
Niemann pick type A and B
32
Type ___ niemann pick patients have organomegaly but no neurologic manifestations
B
33
von Gierke disease is a ___________ of glycogen storage disease
Hepatic type
34
McArdle Syndrome is a type of _____ of glycogen storage disease
Myopathic
35
Von gierke mainly affects
Liver and kidneys
36
McArdle typically affects the
Skeletal muscle
37
Which glycogen storage disease manifests with cardiomegaly that may progress to cardiorespiratory failure?
Pompe Disease (miscellaneous type)
38
Chromosomal abnormalities are present in approximately 1 in ______ newborns
200
39
When genetic material is transferred from part of 1 chromosome to another it is termed a ___________.
Translocation
40
Any number that is not an exact multiple of n is called
aneuploidy
41
+_____resultwhenthecentromeredivideshori- zontally rather than vertically
isochormosome
42
____ involves loss of a portion of a chromosome.
Deletion
43
______ occur when there are two interstitial breaks in a chromosome, and the segment reunites after a com- plete turnaround.
Deletions
44
_______isavariantofadeletion.Afterlossof segments from each end of the chromosome, the arms unite to form a ring.
Ring chromosome
45
Additional genetic material produces more severe defects than does loss of genetic material.
False
46
Excess chromosomal material may result from a com- plete chromosome (as in trisomy) or from part of a chro- mosome (as in robertsonian translocation).
True
47
Most chromosomal disorders are inherited disorders. (
False
48
Virtually all patients with trisomy 21 older than 40 years of age develop neuropathic changes associated with __________.
Alzheimers
49
_____ is the most common of the chromosomal disorders
down syndrome
50
_____has a strong influence on the incidence of Down syndrome. It occurs in 1 in 1550 live births in women younger than 20 years, in contrast with 1 in 25 live births in women older than 45 years.
maternal age
51
is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain
Hungtingtons disease
52
Doctors of chiropractic should be aware that patients with trisomy 21 may manifest with
Atlanto-axial instability
53
Down syndrome is the most common chromosomal disorder with an average incidence of 1 per _______ live births
2,000 if normal age for birthing 33 for older age
54
The most common cause of death among individuals between the ages of 1 and 14 years is _________.
Accidents
55
When T cell immuno- deficiency and hypocalcemia are the dominant features, the patients are said to have
Digeorge syndrome
56
patient presents mild immunodeficiency but pronounced dysmorphology and cardiac defects. DX:
velocardiofacial syndrome
57
patients with 22q11.2 deletion are at particularly high risk for
psychoses such as schizophrenia and bipolar disorder.
58
______ is best defined as male hypogonadism that develops when there are at least two X chromosomes and one or more Y chromosomes.
Klinefelter syndrome
59
______ characterized by primary hypogonad- ism in phenotypic females, results from partial or complete monosomy of the short arm of the X chromosome.
turner syndrome
60
SLE is commonly associated with this syndrome
Klinefelter
61
_____results from deletion of maternal chromosomal region 15q12 and is characterized by mental retardation, ataxia, seizures, and inappropriate laughter.
Angelmans
62
______syndrome results from deletion of paternal chromosomal region 15q12 and is characterized by mental retardation, short stature, hypotonia, obesity, and hypogonadism.
Prader Willi
63
What are the 3 most common causes for death of children under age 1?
1. congenital malformations, deformations, and chromosomal anomalies 2. Premature birth and complications" 3. SIDS
64
The most common cause of death among individuals between the ages of 1 and 14 years is _________.
Accidents
65
One (1) out of every ______ children is born with a congenital anomaly
33
66
Intrauterine constraint is an example of which error in morphogenesis?
Deformations
67
_____result from secondary destruction of an organ or body region that was previously normal in development; thus, in contrast with malformations, dis- ruptions arise from an extrinsic disturbance in morphogen- esis.
Disruptions
68
represent primary errors of morpho- genesis.
Malformations
69
Nearly all chromosomal syndromes are associated with congenital malformations and are the result of abnormal gametogenesis.
True
70
The most common cause of infant mortality is _______________.
Congenital chromosomal abnormalities
71
Fetal infections may be acquired transplacentally or ______________.
Transcervically
72
_____ involve spread of infection from the cervicovaginal canal and may be acquired in utero or during birth. Most bacterial infec- tions (e.g., α-hemolytic streptococcal infection) and a few viral infections (e.g., herpes simplex) are acquired in this manner.
Transcervical, or ascending, infections
73
_____ gain access to the fetal blood- stream by crossing the placenta via the chorionic villi, and may occur at any time during gestation or occasion- ally, as may be the case with hepatitis B and human immunodeficiency virus, at the time of delivery via maternal-to-fetal transfusion.
Transplacental infections
74
Respiratory distress syndrome, necrotizing enterocolitis, and sepsis are all conditions associated with ___________. (
Prematurity
75
Fetal growth restriction is most frequently the result of complicating _________ factors.
Maternal
76
Recovery begins within _____ in uncomplicated cases of neonatal respiratory distress syndrome with management
3-4days
77
causes include any factor that compromises the uteroplacental supply line. This may result from placenta previa (low implantation of the pla- centa), placental abruption (separation of placenta from the decidua by a retroplacental clot), or placental infarc- tion. With placental (and maternal) causes of growth restriction, the growth retardation is asymmetric (i.e., the brain is spared relative to visceral organs such as the liver).
Placental factors
78
____This category consists of conditions that intrinsically reduce growth potential of the fetus despite an adequate supply of nutrients from the mother
Fetal factors
79
What is torch?
Toxoplasma (T), rubella virus (R), cytomegalovirus (C), herpesvirus (H), and any of a number of other (O) microbes such as Treponema pallidum.
80
Neutrophils are commonly associated with the formation of hyaline membranes in infants with respiratory distress syndrome. (
False
81
In ______ of sudden infant death syndrome cases, the infant is younger than 6 months.
90%
82
NEC typically involves the
Ileum, cecum, and right colon
83
Which of the following is the most likely to be lethal?
Hydrops Fetalis
84
more localized and less marked edematous processes, such as isolated pleural and perito- neal effusions or postnuchal fluid collections in the fetus
Cystic hygroma
85
_____ results from an antibody-induced hemo- lytic disease in the newborn that is caused by blood group incompatibility between mother and fetus.
immune hydrops
86
Which of the following is the most common tumor among infants?
hemangiomas
87
Which tumor of infancy may develop in the adrenal medulla and is likely to secrete catecholamines?
neuroblastoma
88
Which of the following is most likely to suggest that a 3-year-old has an undiagnosed neuroblastoma?
Bone pain, hepatomegaly, and ascites
89
Most cases of retinoblastoma are ________ mutations of the RB1 gene
Sporadic
90
A patient with a “cat’s eye reflex” may be suspected of having which condition?
retino blastoma
91
Which of the following involves aniridia, genital abnormalities, and Wilms tumor?
WAGR syndrome
92
Flexner-Wintersteiner rosettes are a characteristic finding of which condition?
Retinoblastomas
93
Respiratory distress syndrome, NE, and sepsis are all conditions associated with
Prematurity