Review questions chapter 6

Question 1

All congenital disorders are hereditary

Answer 1

False

Question 2

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

Answer 2

Familial/Hereditary

Question 3

These disorders are typically present at birth

Answer 3

Congenital

Question 4

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

Answer 4

Point mutations

Question 5

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.

Answer 5

Nonsense

Question 6

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

Answer 6

Frameshift mutations

Question 7

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

Answer 7

Trinucleotide repeat mutations

Question 8

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

Answer 8

Muscular dystrophy

Question 9

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

Answer 9

Homozygous

Question 10

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?

Answer 10

25%

Question 11

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

Answer 11

Marfan syndrome

Question 12

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

Answer 12

Ehler Danlos

Question 13

These are the most common variants of Ehler Danlos

Answer 13

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

Question 14

What is the most common familial disorder?

Answer 14

Familial hypercholesterolemia

Question 15

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

Answer 15

Colon

Question 16

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

Answer 16

Aortic rupture/ Ruptured aortic aneurysm

Question 17

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.

Answer 17

Marfan syndrome

Question 18

Most contortionists are believed to have a form of _____________.

Answer 18

Ehler Danlos

Question 19

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

Answer 19

Cystic Fibrosis

Question 20

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

Answer 20

500

Question 21

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

Answer 21

Myocardial infarction

Homozygotes have a greater risk

Question 22

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

Answer 22

Mental Retardation

Phenylketonuria symptom

Question 23

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

Answer 23

Speech

Question 24

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

Answer 24

Infants and young children

Question 25

Which condition involves the accumulation of GM2 gangliosides within neurons and results in mental retardation?

Answer 25

Tay Sachs

Question 26

_____results from mutation in the gene that encodes glucocerebrosidase and is also cause by activation of macrophages

Answer 26

Gaucher disease

Question 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

Answer 27

Galactosemia

Question 28

______ has hepatomegaly as a common symptom

Answer 28

Galactosemia

Question 29

Which of the following conditions commonly manifests with results in coarse facial features and corneal clouding?

Answer 29

Mucopolysaccharidosis

Question 30

this disease manifests in childhood and is marked by ataxia, verti- cal supranuclear gaze palsy, dystonia, dysarthria, and psy- chomotor regression.

Answer 30

Niemann pick Type C

Question 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

Answer 31

Niemann pick type A and B

Question 32

Type ___ niemann pick patients have organomegaly but no neurologic manifestations

Answer 32

B

Question 33

von Gierke disease is a ___________ of glycogen storage disease

Answer 33

Hepatic type

Question 34

McArdle Syndrome is a type of _____ of glycogen storage disease

Answer 34

Myopathic

Question 35

Von gierke mainly affects

Answer 35

Liver and kidneys

Question 36

McArdle typically affects the

Answer 36

Skeletal muscle

Question 37

Which glycogen storage disease manifests with cardiomegaly that may progress to cardiorespiratory failure?

Answer 37

Pompe Disease (miscellaneous type)

Question 38

Chromosomal abnormalities are present in approximately 1 in ______ newborns

Answer 38

200

Question 39

When genetic material is transferred from part of 1 chromosome to another it is termed a ___________.

Answer 39

Translocation

Question 40

Any number that is not an exact multiple of n is called

Answer 40

aneuploidy

Question 41

+_____resultwhenthecentromeredivideshori- zontally rather than vertically

Answer 41

isochormosome

Question 42

____ involves loss of a portion of a chromosome.

Answer 42

Deletion

Question 43

______ occur when there are two interstitial breaks in a chromosome, and the segment reunites after a com- plete turnaround.

Answer 43

Deletions

Question 44

_______isavariantofadeletion.Afterlossof segments from each end of the chromosome, the arms unite to form a ring.

Answer 44

Ring chromosome

Question 45

Additional genetic material produces more severe defects than does loss of genetic material.

Answer 45

False

Question 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).

Answer 46

True

Question 47

Most chromosomal disorders are inherited disorders. (

Answer 47

False

Question 48

Virtually all patients with trisomy 21 older than 40 years of age develop neuropathic changes associated with __________.

Answer 48

Alzheimers

Question 49

_____ is the most common of the chromosomal disorders

Answer 49

down syndrome

Question 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.

Answer 50

maternal age

Question 51

is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain

Answer 51

Hungtingtons disease

Question 52

Doctors of chiropractic should be aware that patients with trisomy 21 may manifest with

Answer 52

Atlanto-axial instability

Question 53

Down syndrome is the most common chromosomal disorder with an average incidence of 1 per _______ live births

Answer 53

2,000 if normal age for birthing 33 for older age

Question 54

The most common cause of death among individuals between the ages of 1 and 14 years is _________.

Answer 54

Accidents

Question 55

When T cell immuno- deficiency and hypocalcemia are the dominant features, the patients are said to have

Answer 55

Digeorge syndrome

Question 56

patient presents mild immunodeficiency but pronounced dysmorphology and cardiac defects. DX:

Answer 56

velocardiofacial syndrome

Question 57

patients with 22q11.2 deletion are at particularly high risk for

Answer 57

psychoses such as schizophrenia and bipolar disorder.

Question 58

______ is best defined as male hypogonadism that develops when there are at least two X chromosomes and one or more Y chromosomes.

Answer 58

Klinefelter syndrome

Question 59

______ characterized by primary hypogonad- ism in phenotypic females, results from partial or complete monosomy of the short arm of the X chromosome.

Answer 59

turner syndrome

Question 60

SLE is commonly associated with this syndrome

Answer 60

Klinefelter

Question 61

_____results from deletion of maternal chromosomal region 15q12 and is characterized by mental retardation, ataxia, seizures, and inappropriate laughter.

Answer 61

Angelmans

Question 62

______syndrome results from deletion of paternal chromosomal region 15q12 and is characterized by mental retardation, short stature, hypotonia, obesity, and hypogonadism.

Answer 62

Prader Willi

Question 63

What are the 3 most common causes for death of children under age 1?

Answer 63

1. congenital malformations, deformations, and chromosomal anomalies 2. Premature birth and complications" 3. SIDS

Question 64

The most common cause of death among individuals between the ages of 1 and 14 years is _________.

Answer 64

Accidents

Question 65

One (1) out of every ______ children is born with a congenital anomaly

Answer 65

33

Question 66

Intrauterine constraint is an example of which error in morphogenesis?

Answer 66

Deformations

Question 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.

Answer 67

Disruptions

Question 68

represent primary errors of morpho- genesis.

Answer 68

Malformations

Question 69

Nearly all chromosomal syndromes are associated with congenital malformations and are the result of abnormal gametogenesis.

Answer 69

True

Question 70

The most common cause of infant mortality is _______________.

Answer 70

Congenital chromosomal abnormalities

Question 71

Fetal infections may be acquired transplacentally or ______________.

Answer 71

Transcervically

Question 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.

Answer 72

Transcervical, or ascending, infections

Question 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.

Answer 73

Transplacental infections

Question 74

Respiratory distress syndrome, necrotizing enterocolitis, and sepsis are all conditions associated with ___________. (

Answer 74

Prematurity

Question 75

Fetal growth restriction is most frequently the result of complicating _________ factors.

Answer 75

Maternal

Question 76

Recovery begins within _____ in uncomplicated cases of neonatal respiratory distress syndrome with management

Answer 76

3-4days

Question 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).

Answer 77

Placental factors

Question 78

____This category consists of conditions that intrinsically reduce growth potential of the fetus despite an adequate supply of nutrients from the mother

Answer 78

Fetal factors

Question 79

What is torch?

Answer 79

Toxoplasma (T), rubella virus (R), cytomegalovirus (C), herpesvirus (H), and any of a number of other (O) microbes such as Treponema pallidum.

Question 80

Neutrophils are commonly associated with the formation of hyaline membranes in infants with respiratory distress syndrome. (

Answer 80

False

Question 81

In ______ of sudden infant death syndrome cases, the infant is younger than 6 months.

Answer 81

90%

Question 82

NEC typically involves the

Answer 82

Ileum, cecum, and right colon

Question 83

Which of the following is the most likely to be lethal?

Answer 83

Hydrops Fetalis

Question 84

more localized and less marked edematous processes, such as isolated pleural and perito- neal effusions or postnuchal fluid collections in the fetus

Answer 84

Cystic hygroma

Question 85

_____ results from an antibody-induced hemo- lytic disease in the newborn that is caused by blood group incompatibility between mother and fetus.

Answer 85

immune hydrops

Question 86

Which of the following is the most common tumor among infants?

Answer 86

hemangiomas

Question 87

Which tumor of infancy may develop in the adrenal medulla and is likely to secrete catecholamines?

Answer 87

neuroblastoma

Question 88

Which of the following is most likely to suggest that a 3-year-old has an undiagnosed neuroblastoma?

Answer 88

Bone pain, hepatomegaly, and ascites

Question 89

Most cases of retinoblastoma are ________ mutations of the RB1 gene

Answer 89

Sporadic

Question 90

A patient with a “cat’s eye reflex” may be suspected of having which condition?

Answer 90

retino blastoma

Question 91

Which of the following involves aniridia, genital abnormalities, and Wilms tumor?

Answer 91

WAGR syndrome

Question 92

Flexner-Wintersteiner rosettes are a characteristic finding of which condition?

Answer 92

Retinoblastomas

Question 93

Respiratory distress syndrome, NE, and sepsis are all conditions associated with

Answer 93

Prematurity