Final

Question 1

What involves abnormal collagen and is associated with joint dislocation

Answer 1

Ehlers-Danlos syndrome

Question 2

Individuals who are _______ for familial hypercholesterolemia are more severely affected

Answer 2

Homozygous (hypercholesterolemia is autosomal dominant disorder)

Question 3

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

Answer 3

Cystic fibrosis (‘salty kiss’)

Question 4

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

Answer 4

hunter syndrome (hurler syndrome is more severe form)

Question 5

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

Answer 5

Pompe disease

Question 6

What is another name for trisomy 18?

Answer 6

Edwards syndrome

Question 7

What is another name for trisomy 21

Answer 7

Down syndrome

Question 8

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

Answer 8

meiotic nondisjunction (abnormal meiosis)

Question 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

Answer 9

true

Question 10

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

Answer 10

down syndrome (trisomy 21)

Question 11

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

Answer 11

true

Question 12

4% of down syndrome cases are due to what?

Answer 12

Robertsonian translocations

Question 13

22q11.2 deletion syndrome has what common phenotypes

Answer 13

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

(Cognitive delays, schizophrenia, bipolar)

Question 14

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

Answer 14

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

Question 15

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

Answer 15

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

Question 16

Allosome disorders are affect what?

Answer 16

sex chromosomes

Question 17

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

Answer 17

true

Question 18

True or false; all allosome disorders have unique phenotypes

Answer 18

false; some have no phenotypes

Question 19

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

Answer 19

Allosome disorder

Question 20

What is the genotype of a person with Klinefelter syndrome?

Answer 20

MC 47, XXY (extra X on a male)

Question 21

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

Answer 21

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

Question 22

Turner Syndrome has what genotype?

Answer 22

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

Question 23

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

Answer 23

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

Question 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

Answer 24

Single gene disorders

Question 25

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

Answer 25

Fragile X syndrome

Question 26

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

Answer 26

Fragile X syndrome

Question 27

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

Answer 27

true

Question 28

What is genetic anticipation

Answer 28

features become more aggressive with each generation

Question 29

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

Answer 29

false; they are rare

Question 30

Leber hereditary optic neuropathy is associated with what?

Answer 30

Mitochondrial gene mutations (maternal)

Question 31

Epigenetic silencing is associated with what?

Answer 31

histones

Question 32

Angelman syndrome is caused by what?

Answer 32

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

Question 33

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

Answer 33

Angelman syndrome

Question 34

Prader-Wili syndrome is caused by what?

Answer 34

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

Question 35

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

Answer 35

true

Question 36

Pediatric is what time frame of life?

Answer 36

Birth through age 17 years

Question 37

Birth through 4 weeks is what

Answer 37

neonate

Question 38

Childhood is

Answer 38

birth through puberty

Question 39

Adolescent is

Answer 39

puberty through adulthood

Question 40

Congenital disorders effect about what percentage of all births

Answer 40

3%

Question 41

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

Answer 41

true

Question 42

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

Answer 42

perinatal infection

Question 43

Transplacental infections - a perinatal infection, infects fetus how

Answer 43

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

Question 44

TORCH is a acronym for common perinatal infections via what?

Answer 44

Transplacental

Question 45

What does TORCH stand for in transplacental infections

Answer 45

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

Question 46

Premature infants occur when?

Answer 46

< 37 weeks gestation

Question 47

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

Answer 47

true (most common is congenital defects)

Question 48

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?

Answer 48

Small-for-gestational-age (SGA)

Question 49

Pre-term is

Answer 49

< 37 weeks (premature)

Question 50

Early term is

Answer 50

37-38 weeks

Question 51

Full term is

Answer 51

39-40 weeks

Question 52

Late term is

Answer 52

41st week

Question 53

Post term is

Answer 53

> or equal to 42 weeks