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Pathology 205 > Genetics > Flashcards

Genetics Flashcards

1
Q

when do most malformations appear

A

by the 8th week- but the brain can be affected several months after birth- breastfeeding

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2
Q

what is an example of a physical teratogen

A

X-ray other radiation sources

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3
Q

what is an example of a chemical teratogen

A

Thalidomide

Alcohol: IUGR, Dev of brain

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4
Q

what is an example of a microbial teratogen

A

torch

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5
Q

what is TORCH

A 
T: Toxoplasma
O: Other less common infections: EBV, Listeria
R: Rubella
C: cytomegalovirus
H: Herpesvirus
Transplacental, Period of organogenesis
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6
Q

What is Congenital Rubella Syndrome

A 
Microcephaly
Microphthalmia
Heart desease
Petechiae and purpura- red spots on skin
Eye - cataracts, glaucoma, strabismus, nystagmus,
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7
Q

what are some chromosomal abnormalities

A 
Structural Chromosomal abnormalities: 
Deletion: WAGR
Translocation: 
Numerical chromosomal abnormalities: 
Trisomy 21, Trisomy 18, Trisomy 13
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8
Q

what is deletion

A

removal of part of the chromosome

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9
Q

what is Translocation

A

part of one chromosome is on another

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10
Q

what is trisomy21

A

3 chromosomes at nuber 21
down syndrome
Pathogenesis:
Meiotic nondysjunction of maternal chromosome 21 pair –95% (47 chromosomes)

Most common (1 in 800 neonates)
1 in 50 in women older than 35 years of age
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11
Q

what is Turners syndrome

A 
X0 Turners:
Short stature
Webbing
Broad chest
Abnormal extremities
Undeveloped ovaries: 
streak gonads—

lack secondary sex characteristics—
Usually lethal in utero—
High incidence in spontaneous abortions

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12
Q

kLINEFELTER syndrome

A 
XXY 1:700,
Phenotypically male
Tall, thin, long legs
gynecomastia, 
Underdeveloped secondary sex ch.
Infertile
Atrophic Testes
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13
Q

what is Marfan’s syndrome (AD)

A

1 in 10,000, AD,
Mutation in Fibrillin -1gene (ECM gp,
Polymerizes to form microfibrils in both elastic and non elastic tissues

Multisystem Disorder: Sk, ocular, CV, skin, lung
Disproportionate tall stature
Skeletal abnormalities
Ectopia lentis
Mitral valve prolapse
Aortic aneurysm
Spontaneous pneumothorax
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14
Q

what is an autosomal recessive disorder

A

Trait that is expressed only in homozygotes or compound heterozygotes
Parents of affected homozygotes are asymptomatic
Children of affected homozygote (normal partner) are not symptomatic
no these numbers!!!!
Progeny of two HZ : 25% N; 25%Affected
50%: Carriers
Skip generations

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15
Q

what is cystic fibrosis

A

Most common AR, 1 in 2500, 1 in 25 of northern Caucasian descent : carrier
Gene: codes for chloride transport channel in cell membrane

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16
Q

what are the symptoms of cystic fibrosis

A

dont need to know exactlyreocurrent pulmonary infections, lung abscess brinchitis, honey comb lung, abnormal sweats, pancreitis, malabsorption

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17
Q

wha tis X-Linked recessive disorder

A

Recessive genes located on X chromosomes
Incidence higher in males
HZ females are unaffected. (transmit to 50% of sons and daughters)
Gene responsible for the condition is transmitted from an affected man through all his daughters. Daughter’s son have 50% chance of inheriting it. Sisters of affected male are asymptomatic.

Mutant allele is never transmitted directly from father to son but to all the daughters, who are carriers.

18
Q

what is hemophilia

A

X-linked bleeding disorder: bleed into muscle, joints, soft tissue
Males affected, 1 :5000
Due to mutation in factor VIII gene

19
Q

whyat are the signs of hemophilia

A

Easy bruising
Spontaneous Joint and Muscle hemorrhage
Prolonged bleeding from wound

20
Q

which of the following are incorrect:
A. Most critical period of organogenesis is first trimester of pregnancy.

B. Brain development can be affected upto last trimester.

C: Clinical manifestations depend upon viral agent and gestational age at exposure.

D. Reactivation of CMV in first trimester has no effect on fetal growth.

E. Common known teratogen is alcohol

A

a: correct-up to 12weeks
b:
c:
d:
e:

d?

21
Q

adter what stage of the embryo do defects appear

A

the blastocyte stage- before this cells are not commited

22
Q

what is the merula stage

A

not commited- could remove cells and still be ok

23
Q

when is the most critical time of oligogenesis

A

8-12 weeks

24
Q

75% of the causes of human defects are caused from

A

unknown

25
Q

what is the most common chemical teratogens

A

alcohol- brain defects

26
Q

what percent does torch affect

A

2%

27
Q

what present of abnormalities are due to chromosomal abnormalities

A

2%

28
Q

what percent of genetic desease is the result of abnormalities

A

20%

29
Q

HOW CAN YOU PREVENT THE BABY FROM HERPES

A

c-section

30
Q

when can rubella affect the baby

A

1st trimester

31
Q

what is WAGR syndrome

A

whils tumor- most common carcinoma in child
A: absence of iris
g:genital abnormalities
r: mental retardation

32
Q

trisomy 18 13 are usually aborted,

A

dont live long if born anyway

33
Q

what is robertsonian translocation

A

: 21q and long arm of other acrocentric chromosomes. (14 or 22), no relation to maternal age, familial

34
Q

what is meiotic nonjisjunction

A

3 at chromo #21

35
Q

what is chorionic biopsy

A

gets a sample of cells and see if it was down syndrom

36
Q

what is the only sex chromosome combination that is incompatible

A

Y0

37
Q

TURNERS syndrom

A

dont develop secondary sex characteristic because there are no ovaries and no estro or progesterone- need hormonal treatment

38
Q

marfans syndrome

A

joints dont fuse so just grow and grow

39
Q

recesive genes

A

need both allele to be affected

40
Q

first question slide #43

A

recessive

41
Q

44

A

x-link recessive

42
Q

the last q is

A

c

Pathology 205 (23 decks)

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