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Pathology 1 > Final > Flashcards

Final Flashcards

1
Q

What involves abnormal collagen and is associated with joint dislocation

A

Ehlers-Danlos syndrome

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2
Q

Individuals who are _______ for familial hypercholesterolemia are more severely affected

A

Homozygous (hypercholesterolemia is autosomal dominant disorder)

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3
Q

What condition involves abnormal chloride ion transportation and may “salty” sweat

A

Cystic fibrosis (‘salty kiss’)

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4
Q

Which form of mucopolysacharidosis is least likely to result in death during childhood

A

hunter syndrome (hurler syndrome is more severe form)

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5
Q

Which glycogen storage disease is associated with lethal cardiomegaly by age 2 years

A

Pompe disease

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6
Q

What is another name for trisomy 18?

A

Edwards syndrome

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7
Q

What is another name for trisomy 21

A

Down syndrome

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8
Q

95% of the trisomy 21 cases are due to what during development?

A

meiotic nondisjunction (abnormal meiosis)

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9
Q

True or false; a younger mother is much less likely to have a child with down syndrome while conversely a older woman is much more likely to have a child with down syndrome

A

true

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10
Q

Flat faces, epicanthic folds, cardiac malformations, leukemia, lung infections, and alzheimer’s are all phenotypes of what genetic disorder

A

down syndrome (trisomy 21)

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11
Q

True or false; down syndrome is commonly associated with atlanto-axial instability

A

true

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12
Q

4% of down syndrome cases are due to what?

A

Robertsonian translocations

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13
Q

22q11.2 deletion syndrome has what common phenotypes

A

Facial dysmorphism, cardiac defects, thymic and parathyroid hypoplasia, cleft palate

(Cognitive delays, schizophrenia, bipolar)

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14
Q

DiGeorge syndrome (a 22p11.2 deletion) has what immune system involvement?

A

Thymic hypoplasia: decreased T cell immunity (increased infections) Parathyroid hypoplasia: hypocalcemia (tetany)

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15
Q

True or false; Velocardiofacial syndrome (a 22p11.2 deletion) is a highly debilitating immune disease

A

false; has little effects on immune system, affects cardiac muscle much more

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16
Q

Allosome disorders are affect what?

A

sex chromosomes

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17
Q

True or false; allosome disorders are relatively minor compared to autosomal

A

true

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18
Q

True or false; all allosome disorders have unique phenotypes

A

false; some have no phenotypes

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19
Q

Klinefelter syndrome and Turner syndrome are both examples of what kind of disorder?

A

Allosome disorder

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20
Q

What is the genotype of a person with Klinefelter syndrome?

A

MC 47, XXY (extra X on a male)

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21
Q

What phenotype goes along with Klinefelter syndrome (47, XXY)

A

Males with small gonads (sterility), little body hair, gynecomastia, long legs, mild cognitive impairment

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22
Q

Turner Syndrome has what genotype?

A

45, X (absence of one X chromosome) (loss of short arm of X)

23
Q

What are the phenotypes of Turner syndrome (45, X)

A

Short stature, amenorrhea (streak ovaries), neck webbing, (malformed lymphatics), shield chest (wide nipples), cubitus valgus (increased carrying angle), cardiac malformations (aorta coarctation (narrowing))

24
Q

Triplet repeat mutations (trinucleotide repeats), mutations in mitochondrial genes (enzymes for oxidative phosphorylation), and genomic imprinting are all hallmark situations in what kind of disorders

A

Single gene disorders

25
Q

Triplet repeat mutation of (FMR1 mutation) is more commonly called what?

A

Fragile X syndrome

26
Q

Macroorchidism (90%) (large testicles), long face, large mandible, large ears, flat feet, hypotonia, otitis media, and sinusitis are all common phenotypes of what?

A

Fragile X syndrome

27
Q

True or false; females are often carries of fragile X syndrome from the grandfather of her infected son (or the females father)

A

true

28
Q

What is genetic anticipation

A

features become more aggressive with each generation

29
Q

True or false; diseases caused by mutations in mitochondrial genes are common

A

false; they are rare

30
Q

Leber hereditary optic neuropathy is associated with what?

A

Mitochondrial gene mutations (maternal)

31
Q

Epigenetic silencing is associated with what?

A

histones

32
Q

Angelman syndrome is caused by what?

A

Paternal imprinting and maternal deletion of 15q12 (‘q’ long arm)

33
Q

Mental retardation, seizures, ataxia (uncoordinated movements), inappropriate laughter (“happy puppet syndrome” - not politically correct) are all associated with what?

A

Angelman syndrome

34
Q

Prader-Wili syndrome is caused by what?

A

Maternal imprinting and paternal deletion of 15q12 (opposite of angel man syndrome - paternal imprinting and maternal deletion)

35
Q

True or false; prader-wili syndrome is associated with mental retardation, short stature, hypogonadism, hypotonia (decreased muscle tone), obesity (hyperphagia)

A

true

36
Q

Pediatric is what time frame of life?

A

Birth through age 17 years

37
Q

Birth through 4 weeks is what

A

neonate

38
Q

Childhood is

A

birth through puberty

39
Q

Adolescent is

A

puberty through adulthood

40
Q

Congenital disorders effect about what percentage of all births

A

3%

41
Q

True or false; polydactyly, cleft lip, tetralogy of fallot, stillbirth are all examples of congenital disorders/malformations

A

true

42
Q

Transcervical (ascending): from vagina or cervix - caused from inhalation of amniotic fluid - causing pneumonia, meningitis, sepsis is an example of what

A

perinatal infection

43
Q

Transplacental infections - a perinatal infection, infects fetus how

A

crossing placenta, transfusion at birth, or hematogenous (blood spread)

44
Q

TORCH is a acronym for common perinatal infections via what?

A

Transplacental

45
Q

What does TORCH stand for in transplacental infections

A

Toxoplasma, O (other- syphilis, HIV, HPV), Rubella, citomegulo virus, herpes

46
Q

Premature infants occur when?

A

< 37 weeks gestation

47
Q

True or false; the 2nd most common cause of neonatal mortality is premature birth

A

true (most common is congenital defects)

48
Q

Pre-eclampsia (mother develops high BP, high protein in urine after 20th week of pregnancy), alcohol, smoking, maternal malnutrition, teratogens can all cause what for fetus?

A

Small-for-gestational-age (SGA)

49
Q

Pre-term is

A

< 37 weeks (premature)

50
Q

Early term is

A

37-38 weeks

51
Q

Full term is

A

39-40 weeks

52
Q

Late term is

A

41st week

53
Q

Post term is

A

> or equal to 42 weeks

Pathology 1 (3 decks)

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