chapter 5

Question 1

what gene locus is involved in marfan syndrome

Answer 1

Chr 15q21.1

Question 2

what protein is defective in marfans

Answer 2

fibrillin-1

Question 3

what are the two clinical manifestations of marfans

Answer 3

• decreased structural support from CT

- excessive TGF-B signalling

Question 4

in what dz is pectus excavatum a sxs

Answer 4

marfans

Question 5

what dz is associated with ectopia lentis

Answer 5

marfans

Question 6

what is the most common COD is marfan’s pts

Answer 6

aortic dissection

Question 7

in what dz is suturing difficult

Answer 7

ehler’s-danlos

Question 8

what dz is associated with rupture of cornea and retinal detachment

Answer 8

ED VI (kyphoscoliosis)

Question 9

what genes are effected in classic E-D

Answer 9

COL5A1/COL5A2

Question 10

what genes are effected in vascular E-D (III)

Answer 10

COL3A1

Question 11

which types of E-D are AD

Answer 11

I, II, III, IV, VII

Question 12

which types of E-D are AR

Answer 12

VI

Question 13

what genes are affected in kyphoscoliosis ED (VI)

Answer 13

lysyl hydroxylase

Question 14

what dz is associated with rupture of colon and large arteries

Answer 14

ED III (vascular)

Question 15

if you see a pt with an MI at age 25 and skin xanthomas, what mutation do you expect them to have

Answer 15

LDL receptor

Question 16

what dz(s) are associated with cherry-red macula

Answer 16

tay-sachs

Niemann-pick

Question 17

where is the mutation in tay-sachs

Answer 17

chr 15, alpha-subunit of GM2 ganglioside

Question 18

what protein is deficient in tay-sachs

Answer 18

hexosaminidase

Question 19

what molecule accumulates in neurons of tay-sachs pts

Answer 19

gm2 ganglioside

Question 20

what molecule accumulates in lysosomes of N-P pts

Answer 20

sphingomyelin

Question 21

what is the inheritance pattern of niemann-pick

Answer 21

AR

Question 22

what dz is associated w/ foamy cytoplasm

Answer 22

nieman-pick

Question 23

where is the mutation in niemann-pick dz

Answer 23

Chr 11p15.4

Question 24

which type of niemann-pick is associated with complete lack of sphingomyelinase

Answer 24

type A

Question 25

what is the most common type of nieman-pick

Answer 25

type C

Question 26

which type of nieman-pick has NO CNS involvment

Answer 26

type B

Question 27

what is the infantile form of nieman-pick

Answer 27

type A

Question 28

what protein is mutated in gaucher dz

Answer 28

glucocerebroside

Question 29

what dz is associated w/ improper activation of macrophages

Answer 29

gaucher dz

Question 30

which subtype of gaucher dz is does not have CNS involvement

Answer 30

chronic, type I

Question 31

which type of gaucher dz is associated with CNS sxs beginning in adolesence

Answer 31

type III

Question 32

which subtype of gaucher dz does not have increased prevalance in jewish populations

Answer 32

type II

Question 33

which dz is associated with "crumpled tissue paper" cytoplasm

Answer 33

gaucher dz

Question 34

which dz is associated with clouding of the cornea

Answer 34

hurler

Question 35

buildup of what causes the sxs of hunter and hurler syndromes

Answer 35

mucopolysaccharides (xxxxx-sulfate)

Question 36

what is the common COD in hunters/hurlers syndrome

Answer 36

MI/cardiac decompensation

Question 37

what enzyme is deficient in von-gierke dz

Answer 37

glucose-6-phosphatase

Question 38

what is the major symptom of von-gierke dz

Answer 38

HYPOGLYCEMIA

Question 39

what enzyme is deficient in mcardle dz

Answer 39

muscle phosphorylase

Question 40

what are the major sxs of mcardle dz

Answer 40

no increase is lactic acid after excercise | muscle weakness and cramps

Question 41

what enzyme is deficient in pompe dz

Answer 41

acid maltase

Question 42

what is the major symptom of pompe dz

Answer 42

cardiomegaly

Question 43

what is the inheritance pattern of cleft palate

Answer 43

multifactorial (:

Question 44

what chromosomal disorders typically occur near centromeres

Answer 44

robertsonian translocations

Question 45

what structure is involved in robertsonian transolation trisomy 21

Answer 45

q arm of chromosome 21

Question 46

what are the sxs of trisomy 13

Answer 46

PATAU - polydactyly - cleft lip and palate

Question 47

what are the sxs of trisomy 18

Answer 47

EDWARDS - overlapping fingers - horseshoe kidney - micrognathia

Question 48

what are the sxs of trisomy 21

Answer 48

DOWNS - flat facial profile - simian crease - VSD

Question 49

what syndrome is associated with chromosome 22q11.2 deletion

Answer 49

DIGEORGE AND velocardiofacial syndrome

Question 50

what are the sxs of digeorge syndrome

Answer 50

t-cell immunodeficiency (thymic hypoplasia) | HYPOCALCEMIA

Question 51

what are the sxs of velocardiofacial syndrome

Answer 51

LD, cleft palate, prominent nose

Question 52

what is the karyotype of the most common cause of male infertility

Answer 52

47, XXY | klinefelter syndrome

Question 53

what are the sxs of klinefelter

Answer 53

long legs atrophic testes and small penis gynecomastia and lower IQ

Question 54

what three things are pts with 47, XXY karyotype at increased risk of

Answer 54

BREAST CANCER type II DM MVP

Question 55

what is the phenotype of the genetic dz associated with cystic hygroma

Answer 55

45, X

Question 56

what is the cause of cystic hygroma

Answer 56

lymph stasis

Question 57

what dz is associated with streak ovaries

Answer 57

turner

Question 58

what gene locus is affected in fragile X syndrome

Answer 58

Xq27.3

Question 59

what protein is associated with fragile x syndrome and why is it dysfunctional

Answer 59

FMR-1 protein | excessive CGG repeats

Question 60

*****what gene locus is affected in huntingtons *******

Answer 60

4p16.3

Question 61

what dz is associated with macroorchidism and MR in males

Answer 61

fragile x

Question 62

what is the inheritance pattern of fragile x

Answer 62

X-linked, w/ some CARRIER MALES and ANTICIPATION

Question 63

what dz is associated with coarctation of the aorta and bicuspid aortic valve

Answer 63

turners

Question 64

which when do CAG repeat expansions occur in huntingtons

Answer 64

spermatogenesis