Chapter 5

Question 1

multifactorial inheritance disorders

Answer 1

cleft palate/ lip

Question 2

chromosomal disorders

Answer 2

down syndrome

Question 3

disorders due to environment

Answer 3

radiation, chemicals, drugs

Question 4

fetal alcohol syndrome persists

Answer 4

throughout life

Question 5

genetic factors

Answer 5

single gene or multifactorial inheritance or chromosomal aberrations

Question 6

environmental factor

Answer 6

(fetal development) maternal disease, infection, or drugs taken during pregnancy

Question 7

intrauterine factors

Answer 7

(rare) fetal crowding, positioning, or enlargement of fetal parts with the amnion

Question 8

genetic factors, environmental factors and intrauterine factors cause

Answer 8

birth defects

Question 9

autosomal dominant

Answer 9

a single mutant allele from an affected parent is transmitted to an offspring regardless of sex

Question 10

autosomal recessive

Answer 10

manifested only when both members of the gene pair are affected (both parents ineffective but carriers)

Question 11

x linked recessive

Answer 11

always associated with the X chromosome; the inheritance pattern is predominantly recessive

Question 12

autosomal dominant chances

Answer 12

50% regardless of sex

Question 13

autosomal recessive chance

Answer 13

25% affected
50% carrier
25% unaffected carrier

Question 14

x linked recessive chance

Answer 14

female carrier
males affected

Question 15

multifactorial disorders are caused by

Answer 15

multiple genes and environmental factors

Question 16

criteria for defining FAS

Answer 16

pre/postnatal growth retardation
CNS involvement
characteristic face

Question 17

teratogenic agents:

Answer 17

environmental agent that produces abnormalities during embryonic or fetal development

Question 18

single gene disorders are caused by

Answer 18

single defective/mutant gene

Question 19

autosomal dominant

Answer 19

marfan syndrome and von williebrand

Question 20

autosomal recessive

Answer 20

cystic fibrosis and sickle cell

Question 21

x linked recessive

Answer 21

hemophilia A and Duchenne dystrophy

Question 22

fragile X syndrome

Answer 22

fragile site on X chromosome where chromatin fails to condense during mitosis

Question 23

fragile x syndrome is the second most common cause of mental retardation after

Answer 23

down syndrome

Question 24

multifactorial disorders are caused by

Answer 24

multiple genes and environmental factors

Question 25

examples of multifactorial disorders

Answer 25

cleft lip/palate, clubfoot

Question 26

teratogenic agents

Answer 26

radiation, chemicals, drugs, infectious agents

Question 27

criteria for defining fetal alcohol syndrome

Answer 27

prenantal/postnatal growth retardation, central nervous system abnormalities, short eye openings, thin upper lip, elongated face, flattened mid face