Teratology

Question 0

fewer than ____ of human zygotes and less than ___ of all pregnancies result in normal, healthy babies

Answer 0

20-30%, half

Question 1

one of every ___ infants die due to birth defects

Answer 1

5

Question 2

as the embryo develops it ____ embryonic cellular potency and ____ cellular differentiation

Answer 2

loses, gains

Question 3

major malformations usually occur during ____

Answer 3

organogenesis (critical period)

Question 4

embryonic regulation:

Answer 4

internal rearrangements of development schedules, populations of cells which allows the fetus to respond to challenges

Question 5

most birth defects are caused by:

Answer 5

unknown etiology

Question 6

developmental plasticity

Answer 6

ability of a single gene to express more than one phenotype based on environmental conditions i.e. alligator eggs

Question 7

aneuploidy

Answer 7

chromosome number is not a multiple of 23

Question 8

aneuploidy is typically caused by:

Answer 8

nondisjunction during gametogenesis

Question 9

Trisomy 18 is known as:

Answer 9

Edward syndrome

Question 10

Trisomy 13 is known as:

Answer 10

Patau syndrome

Question 11

Turner syndrome

Answer 11

45 X

Question 12

Klinefelter syndrome

Answer 12

47 XXY

Question 13

Cri du chat syndrome

Answer 13

deletion of short arm of chromosome 5

Question 14

most common structural defect of X chromosome:

Answer 14

isochromosomes, centromere divides transversely instead of longitudinally

Question 15

holoprosencephaly

Answer 15

SHH, failure of forebrain to completely separate into two lobes, wide range of brain, skull, and facial defects

Question 16

achondroplasia

Answer 16

FGFR3, dwarfism

Question 17

fetal hydantoin syndrome

Answer 17

embryo lacks epoxide hydrolase, can’t metabolize phenytoin

Question 18

progressive maternal physiological changes during gestation

Answer 18

• plasma volume increases by 50%
• CO rises 30-50%
• GFR rises 50%
• decreased systemic vascular resistance
• decreased plasma protein binding
• altered electrolyte and mineral metabolism
• enhanced pulmonary ventilation

Question 19

preeclampsia

Answer 19

blood vessels in uterus constrict, restricts blood supply to placenta and increases blood pressure in the mother

Question 20

preeclampsia is associated with decreased levels of ___

Answer 20

VEGF

Question 21

maternal diabetes is associated with:

Answer 21

• macrosomia
• spina bifida
• heart defects
• skeletal defects
• urinary, reproductive, and digestive tract defects

Question 22

hyperthermia is associated with:

Answer 22

neural tube defects

Question 23

malformations vs. deformations

Answer 23

deformations occur later in pregnancy, caused by a physical change

Question 24

amniotic bands

Answer 24

fibrous bands from amnion-tears that attach to/encircle body parts

Question 25

prader-willi syndrome

Answer 25

15q deletion in paternally-derived chromosome, associated with paternal hydrocarbon exposure

Question 26

rubella virus/german measles classic triad of clinical signs

Answer 26

cataracts, hearing defects, patent ductus arteriosus

Question 27

the most common viral infection at birth in US:

Answer 27

cytomegalovirus

Question 28

toxoplasma gondii

Answer 28

in feces (litter box)

Question 29

syphilis side effects

Answer 29

``` stillbirth dental anomalies deafness mental retardation skin/bone lesions meningitis ```

Question 30

phenocopy

Answer 30

a phenotype can be caused by multiple factors

Question 31

the leading known preventable cause of mental retardation and birth defects is:

Answer 31

alcohol

Question 32

the most sensitive period for fetal alcohol syndrome is:

Answer 32

the first month of gestation

Question 33

how does smoking probably affect infant mortality?

Answer 33

by leading to more preterm births

Question 34

what halogenated aromatic hydrocarbons were most likely the bad actor, causing birth defects?

Answer 34

PCDF

Question 35

what causes ouch-ouch disease?

Answer 35

mercury exposure