Review questions chapter 6 Flashcards
All congenital disorders are hereditary
False
These types of disorders are derived from ones parents (common names none specific)
Familial/Hereditary
These disorders are typically present at birth
Congenital
What involves the substitution of a single nucleotide base that results in the coding for
a stop codon?
Point mutations
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.
Nonsense
These mutations occur when the insertion or deletion of one or two base pairs alters the reading frame of the DNA strand.
Frameshift mutations
These mutations belong to a special cate- gory, because these mutations are characterized by amplification of a sequence of three nucleotides.
Trinucleotide repeat mutations
Which of the following conditions is an example of a hereditary condition that is not congenital?
Muscular dystrophy
Autosomal recessive conditions typically express phenotypic changes in the ___________ state.
Homozygous
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?
25%
Which of the following is the result of a mutation in the FBN1 gene encoding fibrillin?
Marfan syndrome
________are a group of diseases characterized by defects in collagen synthesis or structure.
Ehler Danlos
These are the most common variants of Ehler Danlos
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
What is the most common familial disorder?
Familial hypercholesterolemia
Which area of the body is not commonly affected by Marfan syndrome?
Colon
Death from a(n) __________ is the most common cause of death among individuals with Marfan
syndrome. (
Aortic rupture/ Ruptured aortic aneurysm
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.
Marfan syndrome
Most contortionists are believed to have a form of _____________.
Ehler Danlos
______is the most common lethal genetic disease that affects white populations. This disease is also Autosomal recessive
Cystic Fibrosis
Familial hypercholesterolemia involves a mutation in the LDLR gene and is present in 1 out of every
______ individuals.
500
Individuals that are homozygous for familial hypercholesterolemia commonly die of _________ before
the age of 20 years.
Myocardial infarction
Homozygotes have a greater risk
Children who lack phenylalanine hydroxylase will develop _________ if untreated early in life.
Mental Retardation
Phenylketonuria symptom
Treatment of galactosemia may prevent many of the pathological effects of the condition, but ______
disorders may remain
Speech
Which patient population is most likely to be impacted by a lysosomal storage disease?
Infants and young children
Which condition involves the accumulation of GM2 gangliosides within neurons and results in mental
retardation?
Tay Sachs
_____results from mutation in the gene that encodes glucocerebrosidase and is also cause by activation of macrophages
Gaucher disease
______ 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
______ has hepatomegaly as a common symptom
Galactosemia
Which of the following conditions commonly manifests with results in coarse facial features and corneal
clouding?
Mucopolysaccharidosis
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
____ 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
Type ___ niemann pick patients have organomegaly but no neurologic manifestations
B
von Gierke disease is a ___________ of glycogen storage disease
Hepatic type
McArdle Syndrome is a type of _____ of glycogen storage disease
Myopathic
Von gierke mainly affects
Liver and kidneys
McArdle typically affects the
Skeletal muscle
Which glycogen storage disease manifests with cardiomegaly that may progress to cardiorespiratory
failure?
Pompe Disease (miscellaneous type)
Chromosomal abnormalities are present in approximately 1 in ______ newborns
200
When genetic material is transferred from part of 1 chromosome to another it is termed a ___________.
Translocation
Any number that is not an exact multiple of n is called
aneuploidy
+_____resultwhenthecentromeredivideshori- zontally rather than vertically
isochormosome
____ involves loss of a portion of a chromosome.
Deletion
______ occur when there are two interstitial breaks in a chromosome, and the segment reunites after a com- plete turnaround.
Deletions
_______isavariantofadeletion.Afterlossof segments from each end of the chromosome, the arms unite to form a ring.
Ring chromosome
Additional genetic material produces more severe defects than does loss of genetic material.
False
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
Most chromosomal disorders are inherited disorders. (
False
Virtually all patients with trisomy 21 older than 40 years of age develop neuropathic changes associated
with __________.
Alzheimers
_____ is the most common of the chromosomal disorders
down syndrome
_____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
is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain
Hungtingtons disease
Doctors of chiropractic should be aware that patients with trisomy 21 may manifest with
Atlanto-axial instability
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
The most common cause of death among individuals between the ages of 1 and 14 years is _________.
Accidents
When T cell immuno- deficiency and hypocalcemia are the dominant features, the patients are said to have
Digeorge syndrome
patient presents mild immunodeficiency but pronounced dysmorphology and cardiac defects. DX:
velocardiofacial syndrome
patients with 22q11.2 deletion are at particularly high risk for
psychoses such as schizophrenia and bipolar disorder.
______ is best defined as male hypogonadism that develops when there are at least two X chromosomes and one or more Y chromosomes.
Klinefelter syndrome
______ characterized by primary hypogonad- ism in phenotypic females, results from partial or complete monosomy of the short arm of the X chromosome.
turner syndrome
SLE is commonly associated with this syndrome
Klinefelter
_____results from deletion of maternal chromosomal region 15q12 and is characterized by mental retardation, ataxia, seizures, and inappropriate laughter.
Angelmans
______syndrome results from deletion of paternal chromosomal region 15q12 and is characterized by mental retardation, short stature, hypotonia, obesity, and hypogonadism.
Prader Willi
What are the 3 most common causes for death of children under age 1?
- congenital malformations, deformations, and chromosomal anomalies
- Premature birth and complications”
- SIDS
The most common cause of death among individuals between the ages of 1 and 14 years is _________.
Accidents
One (1) out of every ______ children is born with a congenital anomaly
33
Intrauterine constraint is an example of which error in morphogenesis?
Deformations
_____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
represent primary errors of morpho- genesis.
Malformations
Nearly all chromosomal syndromes are associated with congenital malformations and are the result of
abnormal gametogenesis.
True
The most common cause of infant mortality is _______________.
Congenital chromosomal abnormalities
Fetal infections may be acquired transplacentally or ______________.
Transcervically
_____ 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
_____ 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
Respiratory distress syndrome, necrotizing enterocolitis, and sepsis are all conditions associated with
___________. (
Prematurity
Fetal growth restriction is most frequently the result of complicating _________ factors.
Maternal
Recovery begins within _____ in uncomplicated cases of neonatal respiratory distress syndrome with
management
3-4days
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
____This category consists of conditions that intrinsically reduce growth potential of the fetus despite an adequate supply of nutrients from the mother
Fetal factors
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.
Neutrophils are commonly associated with the formation of hyaline membranes in infants with
respiratory distress syndrome. (
False
In ______ of sudden infant death syndrome cases, the infant is younger than 6 months.
90%
NEC typically involves the
Ileum, cecum, and right colon
Which of the following is the most likely to be lethal?
Hydrops Fetalis
more localized and less marked edematous processes, such as isolated pleural and perito- neal effusions or postnuchal fluid collections in the fetus
Cystic hygroma
_____ results from an antibody-induced hemo- lytic disease in the newborn that is caused by blood group incompatibility between mother and fetus.
immune hydrops
Which of the following is the most common tumor among infants?
hemangiomas
Which tumor of infancy may develop in the adrenal medulla and is likely to secrete catecholamines?
neuroblastoma
Which of the following is most likely to suggest that a 3-year-old has an undiagnosed neuroblastoma?
Bone pain, hepatomegaly, and ascites
Most cases of retinoblastoma are ________ mutations of the RB1 gene
Sporadic
A patient with a “cat’s eye reflex” may be suspected of having which condition?
retino blastoma
Which of the following involves aniridia, genital abnormalities, and Wilms tumor?
WAGR syndrome
Flexner-Wintersteiner rosettes are a characteristic finding of which condition?
Retinoblastomas
Respiratory distress syndrome, NE, and sepsis are all conditions associated with
Prematurity
