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BASIG q1 > Exam 4 > Flashcards

Exam 4 Flashcards

1
Q

what is rubella embryopathy

A

greatest risk 3-9 weeks of gestation causes congenital cat, heart defects pda patent ductus artiosus, deafness

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2
Q

when is the embryo susceptible to infections and tetrogens

A

3-9 because thats when the baby is forming organs

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3
Q

what is the apgar scor

A

shows infants health at deliery, HR, Breathing, color, reflex, muscle tone each is 0-2 healthiest is 10

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4
Q

what is small for gestational age (SGA)

A

born at term but weigh less than 2,500 g means that there is fetal growth restriction. causes are fetal placental and maternal abnormalities

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5
Q

what are the complications of prematurity

A

respiratory distress syndrom RDS and HMD, retrolental fibroplasia (blindness) , necrotizing enterocolitis

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6
Q

what is RDS and what causes

A

respiratory distress syndrom, caused by prematurity DM C section and male gender, no sufficient surfactant

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7
Q

expain the morphology of RDSS in lung

A

hyaline membranes that line the alveoli have eosinophilic material that have necrotic epithelial cells and plasma proteins

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8
Q

how can you test for RDS

A

test the lemellar body from amniotic fluid. this shows how much surfactants there is

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9
Q

ventilator O2 therapy

A

1.retrolental fibroplasia (retinopathy of prematurity)
2. bronchopulmonary dysplasia

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10
Q

what is retrolental fibroplasia

A

caused by prematurity and ventilation complication. an increase in oxigen decreases VEG F that drastically increases after going to hypoxic room. blood vessels grow behind lens

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11
Q

what is necrotizing entercolitis and what causes it

A

caused by prematurity, eneral feeding causing bacteria in gut. PAF causes apoptosis as it is a mediator.

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12
Q

what is SIDS and what causes

A

sudden infant death in < 1 year. but more common in 2 -4 mo when they sleep in the pron posisition diagnosis exclusion

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13
Q

who is re at risk for SIDS male or email.

A

males, youger parents

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14
Q

what is the triple risk model

A

vulnerable infant and parents, critical development, exogenous or environmental

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15
Q

what is cystic fibrosis - what kind of genetic disease?

A

mucoviscidosis - thick mucous, cuasing pulmonary infections and pancreatic sufficiency, Autosomal ressive disease - autosomal recessive

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16
Q

what is the CFTR gene

A

membrane ion channel mutation causes cystic fibrosis

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17
Q

greasy stool is associated with what disease

A

cystic fibrosis

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18
Q

what disease causes change in sweat electrolytes

A

cycsic fibrosis

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19
Q

Lysosomal storage disease and what causes it? what kind of genetic disease

A

LSD - autosomal recessive except fo hunters syndrome which is x linked

Lack of enzyme or protein needed for healthy lysosomes, can cause enlargment of spleen hepatosplenomegaly

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20
Q

what is Tay- sachs

A

type of LSD, lack Hexosaminidase A what is needed to break down ganlioside GM2. they then accumliate in neurons (swollen and foamy - onion skin like) and central autonomic nervous system and Retina (cherry red spot macula and the pallor of retina due to swollen ganglion cells). death w/in 2-3 years. no increase in size of spleen

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21
Q

what accumulates in the retina with people with Taysachs

A

GM2 gangliosides

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22
Q

what is nieman pic disease

A

type of LSD - deficiency of sphingolyelinase so accumulation in phinogomyelin in phago cytic cells and neurons.

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23
Q

whats the difference between type A and b of Nieman Pick dz

A

type of LSD - deficiency of sphingolyelinase so accumulation in phinogomyelin in phago cytic cells
A - + hapatosplenomegaly, CNS , Cherry red spot in retina
B- -orangomegaly and no CNS

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24
Q

-hapatospenogely and cherry red spot disease

A

type A nieman pick

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25
Q
  • hapatospenogely and cherry red spot disease
A

tay sachs

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26
Q

what is the most common LSD

A

Gaucher dz

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27
Q

what is gaucher dz

A

LSD, lack lysosomal glucocerebrosidase so incease in gluco cerebroside in phagocytic cells that form gaucher cells that causes swollen phago cystic cell

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28
Q

what is gaucher dz different types, when do they occur

A

1: late to childhood adult hood no brain and +splenomegaly and skeletal involvement, Bone marrow involvment
2,3 : infancy or lateronly brain

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29
Q

What is MPS mucopolysacharidodoses, what kind of genetic disease

A

incease in MPS (dermatan sulfates and heparan sulfates) in phago cytes fibroblast and endothelium and smooth muscle cells. most are Autosomal recessive except hunters, +megaly mental disability, delayed developmental milestone coarse feature

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30
Q

What is hulers syndrom

A

most sever MPS disease - AR- life expectancy 6-10 years,

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31
Q

what is hunters syndrom

A

milder type of MPS but

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32
Q

ballooned pagocytic cells are a sign of what dz

A

MPS.

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33
Q

cloudyness of cornea is associated with what disease

A

in hurlers

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34
Q

course feature is associated with what diease

A

MPS

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35
Q

what is Galactosemia what kind of genetic disorder

A

type of LSD , AR, deficient in GALT1 enzyme causing accumulation of galactose 1 phosphate and its metabolites go Lense liver (jaundice + hepatomegaly) CNS (speech issue)

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36
Q

cataracts is associated with what diease

A

Gactosemia

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37
Q

What is PKU and what kind of genetic dz

A

AR, deficient to phenylalain hydroxylase, causeing phenylalalaninemia and impairs brain development, decrease in pigment in skin and hair and strong musty odor

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38
Q

what is pinciple of segregation

A

genes segregate during MEIOSIS and are transmitted as distinct entities from one generation to another

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39
Q

what is independent assortment

A

genes at differnet loci are transmitted independently

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40
Q

what rule do you use - muliplication or addition….. probability of getting heads on two coin tosses

A

1/2 X 1/2

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41
Q

what rule do you use - muliplication or addition….. probability of getting two heads or two tails in total of two coin tosses

A

1/4+1/4

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42
Q

P+q=1
p+q)^2=p^2+2pq+q^2=1 or

A

p is dominent and q is recessive

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43
Q

what formula calculates heterozygote Aa

A

2pq

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44
Q

autosomal dominant trend

A
  1. both sex show = ratio
  2. no skipping
  3. father to son
    4 affected heterozygote give dz to half children

1/200 or 0.1% in pop

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45
Q

occurance risk vs recurrence risk

A

occuranceL probability of producing affected child with NO family hx (use pop genetics)
recurrence: + family hx

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46
Q

what rule do you use - muliplication or addition….. probability of having 3 children with achondroplasia

A

1/2X 1/2X1/2

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47
Q

Achondroplasia
pattern of inheritence
gene

A

Achondroplasia
pattern of inheritence:autosomal dominant - results from glycine to arginine missense mutation
gene: point mutation FGFR3
DWARFISM

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48
Q

neurofibromatosis 1
pattern of inheritence
gene

A

neurofibromatosis 1
pattern of inheritence: autosomal dominant
gene: NF1 Neurofibromatosis 1

skin tumor and iris raised pigment

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49
Q

vitreoretinochoroidopathy
pattern of inheritence
gene

A

vitreoretinochoroidopathy
pattern of inheritence: Auto Domi
gene: BEST1 encodes calcium activated choride channel retinal priment epithelium

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50
Q

Hereditary breast and ovarian CA
pattern of inheritence
gene

A

pattern of inheritence: autosomal dominant
gene: BRCA 1 and 2 which is tumor suppressor

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51
Q

mating between two carries in Autosomal reccessive dz results in what percent of offspring having the disease

A

25%

52
Q

Autosomal recessive trends

A
  1. dz usually in siblings
  2. males and females are usually affected =
  3. 1/4 offspring of two heterozygotes carries will be affected.
  4. consanguinity present usually (related will mate)
53
Q

most metabolic diseases are what type of genetic dz

A

autosomal recessive

54
Q

what are the two recurrence risk of autosomal dominant

A

-2 heterozygot parents is 25% orrrr
-homozygous and heterozygote is 50%
-two homozygous then 100%

55
Q

hypophosphatasia
pattern of inheritence
gene

A

hypophosphatasia
pattern of inheritence: autosomal recessive
gene: alaline phsopatase ALPL (growth and devel of bone)

causes weak soft bones
complication to patterns of inheritance: variable expression

56
Q

Hurler syndrom
pattern of inheritence
gene

A

pattern of inheritence: AR
gene alpha-L Iduronidase

build up of glycosaminoglycan in lysosomes

57
Q

Autosomal recessive inheritance
pattern of inheritence
gene

A

pattern of inheritence: AR
gene: CFTR

complication to patterns of inheritance: plierotropy

58
Q

what is the usual recurrence risk for AR and AD

A

AR: 25 and AD 50%

59
Q

what is germline mosaicism

A

mutation in some germ cells but not SOMATIC cells . parent can transmit mutation to multiple offspring

60
Q

what is reduced penetrance

A

when your a carrier but you dont present the phenotype - Retino blastoma

61
Q

BRCA mutation is what type of complications of patterns of inheritence

A

age dependent penetrance or delayed age of onset

62
Q

WHat is pleiotropy

A

genes that exert effects on mutiple aspecs of physiology and anatomy, hypophosphatsia

63
Q

locus heterogenetiy

A

possibility of gene mutation one two chromosomes. only need one mutation. APKD caused by mutation in chromosome 16 or chromosome 4 orrrr mutation in BRCA1 or BRCA2 for breast CA

64
Q

anticipation

A

offspring of affected parent is going to have either earlier age of onset or worse symptoms , BRCA and huntingtons dz fragile x

65
Q

consanguinity

A

mate of shared genetic info.

66
Q

what is lynch syndrom

A

mutation in dna repair causes colon cancer

67
Q

why is Bcl-2 gene special

A

it is antapoptotic

68
Q

APC is responsible for what cancer

A

colon

69
Q

why is BAX gene special

A

it is a pro apoptosis gene

70
Q

what is EBV

A

oncovirus causes cancer in lyph naso pharyngel gastric

71
Q

what i superior vena cava syndrom

A

lung carcinoma around sv causes face and arm swelling

71
Q

what is this marker for
cea

A

adenocarcinoma colon

71
Q

what is paraneoplastic syndrom

A

homone or ab producing tumor cells

71
Q

Beta HCG
what is this marker for

A

choriocarcinoma gestational ovary and testies

71
Q

CA125
what is this marker for

A

ovarian adenocarcinoma

72
Q

CA19-9
what is this marker for

A

pancreatic adenocarcinoma

72
Q

radon causes what kind of cancer

A

lung

73
Q
A
74
Q

> ____ msv shows goos statistical evidence and >____ msv .. chest x-ray is ____ msv

A

> __50_ msv shows goos statistical evidence and >__5__ msv .. chest x-ray is __10_ msv

74
Q

what is sturge weber syndrom

A

portwine stain in trigeminal nerve, glaucoma

75
Q

what is the most common site (organ) of malignant tumor in childrens

A

adrenal medula and sympathetic gangiol. (neuroblastoma)

76
Q

ganglioneuroblastoma, ganglion neuroma, classic neuroblastoma

A

-ganglioneuroblastoma intermediat form of malignancy,
- ganglion neuroma:mature and benign in behavior,
-classic neuroblastoma poor prognosisi

77
Q

where are homer wrties pseudo rosettes found

A

in classict neuroblastoma cells

77
Q

in neuroblastoma,what markers are in urine

A

HVA VMA catacholamine

77
Q

what is wilms tumor what gene involved

A

kidney tumor with good prognosisi unless + anaplasia
-WT1 gene

78
Q

3 groups with increased risk of wilms tumor

A

1.wagr (wilms tumor aniridia genital malformation)
2. Denys drash (gonadal dysgen)
3.Beck with wiedemeann (enlarge tongue and kidney)

79
Q

Retinoblastome is ___ % familialwhat are the symptoms

A

whitish hue to pupil strab pain and tender wintersteiner rosettes and can spread to bone

80
Q

what symptoms from DM embryopathy

A

CNS

81
Q

prematurity is <

A

37 weeks

82
Q

what does corticosteroids and insulin do to surfactants

A

cort increase insuline decreae

83
Q

increase in dermatans and heparan is a syne of what disease

A

-hurler syndrome cloudy corneas coarsened features enlarged tong and abdomen protuberant
-hunter syndrom- similar to above but less sever and no cornea clouding

84
Q

what gene is mutated for hemophilia and what type of genetic dz is it? Complications of pattern of inheritance

A

X linked recessive and factor 8 clotting factor VIII no complication

85
Q

what gene is mutated for duchenne muscular dystrophy and what type of genetic dz is it? Complications of pattern of inheritance?

A

X linked recessive dystophin DMD germline mosaicism

85
Q

what gene is mutated for fragile x syndrome and what type of genetic dz is it? Complications of pattern of inheritance?

A

gene: FMR1
Dz: x linked dom
complication: reduced penetrance

86
Q

trend of X linked dominant

A

all daughters have dz and are usually heterozygotes

87
Q

which chromosome contains imprinted gene

A

chromosome 15

88
Q

if angelman is silent what disease is it

A

angelman

89
Q

what is uniparental disomy and what disease occurs

A

when two chromosomes from the same parent . If you get two angel man then you have prader will syndrome

90
Q

what genes active in women from prader will syndrom

A

angelman

91
Q

women give AS or PWS gene on chromosome? what about ment

A

angelman, men gi e PWS

92
Q

2 ways to get Prader willi syndrome

A

1 deletion of PWS on dad side and keeping AS on mom
2. two copies of mom chromosome

93
Q

2 ways to get angelman syndrome

A

1 deletion AS on mom
2. two copies of dad chromosome

94
Q

what is heteroplasmy

A

the situation in which two or more mtDNA variants exist within the same cell.

95
Q

what is Leber hereditary optic neuropathy LHON:
gene?
Type of genetic dz?

A

what is Leber hereditary optic neuropathy LHON:
gene? MTND4
Type of genetic dz? mitochondrial DNA dz

96
Q

(MERRF) Mycoclonic epilepsy with ragged red fibers
gene?
Type of genetic dz?

A

gene? single trna gene
Type of genetic dz? mitochondrial dna dz

97
Q

what is additive polygenic model

A

variation due to comined effect of multiple genes and diffenet loci. think of the bell shape curve

98
Q

the lower the threshold the ______ the amount of environment is needed to have diseaseas

A

the lower the threshold the __ less____ the amount of environment is needed to have diseaseas

99
Q

recurrence risk is _______ when proband belongs to less commonly affect sex

A

recurrence risk is __ higher_____ when proband belongs to less commonly affect sex

100
Q

which one women or male has
higher recurrence risk
higher occurrence risk
has a higher threshold

A

female has higher recurrance and male has higher occurrence risk
female has higher threshold

101
Q

higher monozygotic twin more prevelent dz means genetic influence is _____

A

large

102
Q

Heritability estimation equation

A

h=2(Cmz-Cdz)

103
Q

polypoidy usually occurs due to

A

dispermy which is the fertilization of an ovum by two sperm cells

104
Q

difference between aneuploidy and polypoidy and what causes them

A

aneuploidy is copy of single chromosome (due to nondisjunction)
polypoidy is copy of entire chromosome set (dispermy)

105
Q

trisomy and monosoy is what type

A

anueploidy

106
Q

non disjunction during meiosis 2 causes

A

2 normal 1 trisomy and 1 monosomy

107
Q

non disjunction during meiosis 1 causes

A

2 trisomy and 2 monosomy

108
Q

down syndrome
karyotype cause and characteristics

A

3 copies of trisomy 21
-95% usually cuased by nondisjunction in mothers 90%
-5% due to robertsonian translocation

109
Q

edward syndrom
karyotype cause and characteristics

A

3 coppies of trisomy 18
most commone amount still born
most die before birth
caused by nondisjunction
no r. translocation due to it not being acrocentric

110
Q

patau syndrome
karyotype and characteristics

A

trisomu 13
nondisjunction
nondisjunction
r. translocation

111
Q

turner syndrome
karyotype and characteristics

A

only have X chromosome have 45 chromosome
- only 1 copy of par 1 or par2 and lacking second copy and 50% of par gene
lack development of secondary characteristic, similar dz with down syndrom

112
Q

klinefelter
karyotype and characteristics

A

extra Y so total of 47 XXY
-in males
- extra active copy of all the pseudoautosomal gene and extra x chromosome
-hypogonadms, weaker muscle , long arms and legs infertal
-75% not diagnosed

113
Q

what trisomy is most common chromosome abn in stillborn

A

trisomy 18 edward

114
Q

What is sry

A

sex derermining region on Y

115
Q

what is the difference between reciprocal and robertsonian translocation

A

reciprocal - even exchange, issues usually happen with the offspring of someone with reciprocal
r. translocation - fusion between two acrocentric, attaching to another chromosomes, can cause issues for parent or offspring

116
Q

R. Translocation and their commone chromosome

A

21, 14

BASIG q1 (11 decks)

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