Final Flashcards Preview

Pathology 1 > Final > Flashcards

Flashcards in Final Deck (53)
Loading flashcards...
1

What involves abnormal collagen and is associated with joint dislocation

Ehlers-Danlos syndrome

2

Individuals who are _______ for familial hypercholesterolemia are more severely affected

Homozygous (hypercholesterolemia is autosomal dominant disorder)

3

What condition involves abnormal chloride ion transportation and may "salty" sweat

Cystic fibrosis ('salty kiss')

4

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

hunter syndrome (hurler syndrome is more severe form)

5

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

Pompe disease

6

What is another name for trisomy 18?

Edwards syndrome

7

What is another name for trisomy 21

Down syndrome

8

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

meiotic nondisjunction (abnormal meiosis)

9

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

true

10

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

down syndrome (trisomy 21)

11

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

true

12

4% of down syndrome cases are due to what?

Robertsonian translocations

13

22q11.2 deletion syndrome has what common phenotypes

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

(Cognitive delays, schizophrenia, bipolar)

14

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

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

15

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

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

16

Allosome disorders are affect what?

sex chromosomes

17

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

true

18

True or false; all allosome disorders have unique phenotypes

false; some have no phenotypes

19

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

Allosome disorder

20

What is the genotype of a person with Klinefelter syndrome?

MC 47, XXY (extra X on a male)

21

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

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

22

Turner Syndrome has what genotype?

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

23

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

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

24

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

Single gene disorders

25

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

Fragile X syndrome

26

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

Fragile X syndrome

27

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

true

28

What is genetic anticipation

features become more aggressive with each generation

29

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

false; they are rare

30

Leber hereditary optic neuropathy is associated with what?

Mitochondrial gene mutations (maternal)