Goljan 5 Genetics

Question 1

Missense mutation

Answer 1

sickle cellvaline replaces glutamic acid

Question 2

beta thal major

Answer 2

nonsense mutation with stop codon

Question 3

frameshift mutation

Answer 3

tay-sachs

Question 4

anticipation

Answer 4

additional trinucleotide repeats increase disease severity in future generations

Question 5

PKU

Answer 5

increased phenylaninedecreased tyrosine

Question 6

von gierke’s

Answer 6

glycogen storage disease - glucose 6 phosphatase deficiency (gluconeogenic enzyme); fasting hypoglycemia, hepatorenalmegally

Question 7

most common AR disorder

Answer 7

hemochromatosis (absorb too much iron)

Question 8

most common AD disease

Answer 8

von willebrand (excessive bleeding)

Question 9

reduced penetrance

Answer 9

individual with mutant gene does not express trait but passes it on

Question 10

most common x linked

Answer 10

fragile x

Question 11

number of barr bodies

Answer 11

x chromosome minus 1

Question 12

nondisjunction

Answer 12

unequal seperation of chromosomes in meiosis

Question 13

mosaicism

Answer 13

nondisjunction in mitosis

Question 14

cru di chat

Answer 14

deletion of short arm chromosome 5retardation, cat like cry, VSD

Question 15

down syndrome

Answer 15

most cases due to nondisjunctionmost common genetic cause of retardationadvanced maternal agedoudenal atresia, hirschprungsAD at young age

Question 16

Edwards

Answer 16

trisomy 18 retardation, chenched hands, VSD
survival past neonatal period uncommon
defects of lungs, kidneys, heart, diaphragm

Question 17

pataus

Answer 17

trisomy 13 retardation, cleft lip/palate, polydactyly, VSD, cystic kidneys
more neuro issues than edwards and down syndrome
survival past neonatal period uncommon

Question 18

Most common cause of primary amenorrhea

Answer 18

turners

Question 19

Klinefelters

Answer 19

decreased testosterone and inhibin - increased LH and FSH

XXY

Question 20

XYY

Answer 20

paternal nondysjunction, aggressive behavior, can be taller

clinical phenotype basically normal

Question 21

prader willi

Answer 21

microdeletion on paternal chromosome 15 - genes on maternal chromosome turned off
overeating, obesity, behavioral problems, some mental impairment, small genitals

Question 22

angelman

Answer 22

microdeletion on maternal chromosome 15

developmental disabilities and neurological problems, happy personalities

Question 23

malformation

Answer 23

disturbance in morphogenesis in embryonic periodopen neural tube, cleft lip/palate
usually permanent, early in pregnancy

Question 24

deformation

Answer 24

extrinsic disturbance in fetal development
oligohydramnios causing potters facies, club feet
usually temporary, late in pregnancy

Question 25

congenital anomalies

Answer 25

genetic + environmental factors

Question 26

maternal diabetes

Answer 26

macrosomia (increased birth weight) - hyperinsulinemia increases muscle mass and fat

Question 27

alcohol

Answer 27

most common fetal teratogen

Question 28

cytomegalovirus

Answer 28

most common pathogen causing congenital infection

Question 29

retinoic acid in preg

Answer 29

Vitamin A - disrupts HOX gene fxn (craniofacial, CNS, Cardiovascular defects)

Question 30

Stillbirth

Answer 30

most often caused by abruptio placentae (premature separation of the placenta from the uterus)

Question 31

spontaneous abortion

Answer 31

frequently caused by trisomy 16

Question 32

large for gestational age

Answer 32

maternal diabetes

Question 33

prematurity

Answer 33

most common cause of neonatal death/morbidity

Question 34

interuterine growth restriction

Answer 34

maternal factors often responsible for small infants - often oligohydramnios (too little amniotic fluid)

Question 35

open neural tube defect

Answer 35

folate deficiency prior to conception, increased alpha feto protein (AFP)

Question 36

triple marker for downs

Answer 36

decreased AFT and urine estriol, increased hCG

Question 37

age dependent changes

Answer 37

invariant with age, decreased gfr, prostate hyperplasia

Question 38

age related changes

Answer 38

common but not inevitable AD, systolic hypertension