Exam 4 Flashcards
what is rubella embryopathy
greatest risk 3-9 weeks of gestation causes congenital cat, heart defects pda patent ductus artiosus, deafness
when is the embryo susceptible to infections and tetrogens
3-9 because thats when the baby is forming organs
what is the apgar scor
shows infants health at deliery, HR, Breathing, color, reflex, muscle tone each is 0-2 healthiest is 10
what is small for gestational age (SGA)
born at term but weigh less than 2,500 g means that there is fetal growth restriction. causes are fetal placental and maternal abnormalities
what are the complications of prematurity
respiratory distress syndrom RDS and HMD, retrolental fibroplasia (blindness) , necrotizing enterocolitis
what is RDS and what causes
respiratory distress syndrom, caused by prematurity DM C section and male gender, no sufficient surfactant
expain the morphology of RDSS in lung
hyaline membranes that line the alveoli have eosinophilic material that have necrotic epithelial cells and plasma proteins
how can you test for RDS
test the lemellar body from amniotic fluid. this shows how much surfactants there is
ventilator O2 therapy
1.retrolental fibroplasia (retinopathy of prematurity)
2. bronchopulmonary dysplasia
what is retrolental fibroplasia
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
what is necrotizing entercolitis and what causes it
caused by prematurity, eneral feeding causing bacteria in gut. PAF causes apoptosis as it is a mediator.
what is SIDS and what causes
sudden infant death in < 1 year. but more common in 2 -4 mo when they sleep in the pron posisition diagnosis exclusion
who is re at risk for SIDS male or email.
males, youger parents
what is the triple risk model
vulnerable infant and parents, critical development, exogenous or environmental
what is cystic fibrosis - what kind of genetic disease?
mucoviscidosis - thick mucous, cuasing pulmonary infections and pancreatic sufficiency, Autosomal ressive disease - autosomal recessive
what is the CFTR gene
membrane ion channel mutation causes cystic fibrosis
greasy stool is associated with what disease
cystic fibrosis
what disease causes change in sweat electrolytes
cycsic fibrosis
Lysosomal storage disease and what causes it? what kind of genetic disease
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
what is Tay- sachs
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
what accumulates in the retina with people with Taysachs
GM2 gangliosides
what is nieman pic disease
type of LSD - deficiency of sphingolyelinase so accumulation in phinogomyelin in phago cytic cells and neurons.
whats the difference between type A and b of Nieman Pick dz
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
-hapatospenogely and cherry red spot disease
type A nieman pick
- hapatospenogely and cherry red spot disease
tay sachs
what is the most common LSD
Gaucher dz
what is gaucher dz
LSD, lack lysosomal glucocerebrosidase so incease in gluco cerebroside in phagocytic cells that form gaucher cells that causes swollen phago cystic cell
what is gaucher dz different types, when do they occur
1: late to childhood adult hood no brain and +splenomegaly and skeletal involvement, Bone marrow involvment
2,3 : infancy or lateronly brain
What is MPS mucopolysacharidodoses, what kind of genetic disease
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
What is hulers syndrom
most sever MPS disease - AR- life expectancy 6-10 years,
what is hunters syndrom
milder type of MPS but
ballooned pagocytic cells are a sign of what dz
MPS.
cloudyness of cornea is associated with what disease
in hurlers
course feature is associated with what diease
MPS
what is Galactosemia what kind of genetic disorder
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)
cataracts is associated with what diease
Gactosemia
What is PKU and what kind of genetic dz
AR, deficient to phenylalain hydroxylase, causeing phenylalalaninemia and impairs brain development, decrease in pigment in skin and hair and strong musty odor
what is pinciple of segregation
genes segregate during MEIOSIS and are transmitted as distinct entities from one generation to another
what is independent assortment
genes at differnet loci are transmitted independently
what rule do you use - muliplication or addition….. probability of getting heads on two coin tosses
1/2 X 1/2
what rule do you use - muliplication or addition….. probability of getting two heads or two tails in total of two coin tosses
1/4+1/4
P+q=1
p+q)^2=p^2+2pq+q^2=1 or
p is dominent and q is recessive
what formula calculates heterozygote Aa
2pq
autosomal dominant trend
- both sex show = ratio
- no skipping
- father to son
4 affected heterozygote give dz to half children
1/200 or 0.1% in pop
occurance risk vs recurrence risk
occuranceL probability of producing affected child with NO family hx (use pop genetics)
recurrence: + family hx
what rule do you use - muliplication or addition….. probability of having 3 children with achondroplasia
1/2X 1/2X1/2
Achondroplasia
pattern of inheritence
gene
Achondroplasia
pattern of inheritence:autosomal dominant - results from glycine to arginine missense mutation
gene: point mutation FGFR3
DWARFISM
neurofibromatosis 1
pattern of inheritence
gene
neurofibromatosis 1
pattern of inheritence: autosomal dominant
gene: NF1 Neurofibromatosis 1
skin tumor and iris raised pigment
vitreoretinochoroidopathy
pattern of inheritence
gene
vitreoretinochoroidopathy
pattern of inheritence: Auto Domi
gene: BEST1 encodes calcium activated choride channel retinal priment epithelium
Hereditary breast and ovarian CA
pattern of inheritence
gene
pattern of inheritence: autosomal dominant
gene: BRCA 1 and 2 which is tumor suppressor
mating between two carries in Autosomal reccessive dz results in what percent of offspring having the disease
25%
Autosomal recessive trends
- dz usually in siblings
- males and females are usually affected =
- 1/4 offspring of two heterozygotes carries will be affected.
- consanguinity present usually (related will mate)
most metabolic diseases are what type of genetic dz
autosomal recessive
what are the two recurrence risk of autosomal dominant
-2 heterozygot parents is 25% orrrr
-homozygous and heterozygote is 50%
-two homozygous then 100%
hypophosphatasia
pattern of inheritence
gene
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
Hurler syndrom
pattern of inheritence
gene
pattern of inheritence: AR
gene alpha-L Iduronidase
build up of glycosaminoglycan in lysosomes
Autosomal recessive inheritance
pattern of inheritence
gene
pattern of inheritence: AR
gene: CFTR
complication to patterns of inheritance: plierotropy
what is the usual recurrence risk for AR and AD
AR: 25 and AD 50%
what is germline mosaicism
mutation in some germ cells but not SOMATIC cells . parent can transmit mutation to multiple offspring
what is reduced penetrance
when your a carrier but you dont present the phenotype - Retino blastoma
BRCA mutation is what type of complications of patterns of inheritence
age dependent penetrance or delayed age of onset
WHat is pleiotropy
genes that exert effects on mutiple aspecs of physiology and anatomy, hypophosphatsia
locus heterogenetiy
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
anticipation
offspring of affected parent is going to have either earlier age of onset or worse symptoms , BRCA and huntingtons dz fragile x
consanguinity
mate of shared genetic info.
what is lynch syndrom
mutation in dna repair causes colon cancer
why is Bcl-2 gene special
it is antapoptotic
APC is responsible for what cancer
colon
why is BAX gene special
it is a pro apoptosis gene
what is EBV
oncovirus causes cancer in lyph naso pharyngel gastric
what i superior vena cava syndrom
lung carcinoma around sv causes face and arm swelling
what is this marker for
cea
adenocarcinoma colon
what is paraneoplastic syndrom
homone or ab producing tumor cells
Beta HCG
what is this marker for
choriocarcinoma gestational ovary and testies
CA125
what is this marker for
ovarian adenocarcinoma
CA19-9
what is this marker for
pancreatic adenocarcinoma
radon causes what kind of cancer
lung
> ____ msv shows goos statistical evidence and >____ msv .. chest x-ray is ____ msv
> __50_ msv shows goos statistical evidence and >__5__ msv .. chest x-ray is __10_ msv
what is sturge weber syndrom
portwine stain in trigeminal nerve, glaucoma
what is the most common site (organ) of malignant tumor in childrens
adrenal medula and sympathetic gangiol. (neuroblastoma)
ganglioneuroblastoma, ganglion neuroma, classic neuroblastoma
-ganglioneuroblastoma intermediat form of malignancy,
- ganglion neuroma:mature and benign in behavior,
-classic neuroblastoma poor prognosisi
where are homer wrties pseudo rosettes found
in classict neuroblastoma cells
in neuroblastoma,what markers are in urine
HVA VMA catacholamine
what is wilms tumor what gene involved
kidney tumor with good prognosisi unless + anaplasia
-WT1 gene
3 groups with increased risk of wilms tumor
1.wagr (wilms tumor aniridia genital malformation)
2. Denys drash (gonadal dysgen)
3.Beck with wiedemeann (enlarge tongue and kidney)
Retinoblastome is ___ % familialwhat are the symptoms
whitish hue to pupil strab pain and tender wintersteiner rosettes and can spread to bone
what symptoms from DM embryopathy
CNS
prematurity is <
37 weeks
what does corticosteroids and insulin do to surfactants
cort increase insuline decreae
increase in dermatans and heparan is a syne of what disease
-hurler syndrome cloudy corneas coarsened features enlarged tong and abdomen protuberant
-hunter syndrom- similar to above but less sever and no cornea clouding
what gene is mutated for hemophilia and what type of genetic dz is it? Complications of pattern of inheritance
X linked recessive and factor 8 clotting factor VIII no complication
what gene is mutated for duchenne muscular dystrophy and what type of genetic dz is it? Complications of pattern of inheritance?
X linked recessive dystophin DMD germline mosaicism
what gene is mutated for fragile x syndrome and what type of genetic dz is it? Complications of pattern of inheritance?
gene: FMR1
Dz: x linked dom
complication: reduced penetrance
trend of X linked dominant
all daughters have dz and are usually heterozygotes
which chromosome contains imprinted gene
chromosome 15
if angelman is silent what disease is it
angelman
what is uniparental disomy and what disease occurs
when two chromosomes from the same parent . If you get two angel man then you have prader will syndrome
what genes active in women from prader will syndrom
angelman
women give AS or PWS gene on chromosome? what about ment
angelman, men gi e PWS
2 ways to get Prader willi syndrome
1 deletion of PWS on dad side and keeping AS on mom
2. two copies of mom chromosome
2 ways to get angelman syndrome
1 deletion AS on mom
2. two copies of dad chromosome
what is heteroplasmy
the situation in which two or more mtDNA variants exist within the same cell.
what is Leber hereditary optic neuropathy LHON:
gene?
Type of genetic dz?
what is Leber hereditary optic neuropathy LHON:
gene? MTND4
Type of genetic dz? mitochondrial DNA dz
(MERRF) Mycoclonic epilepsy with ragged red fibers
gene?
Type of genetic dz?
gene? single trna gene
Type of genetic dz? mitochondrial dna dz
what is additive polygenic model
variation due to comined effect of multiple genes and diffenet loci. think of the bell shape curve
the lower the threshold the ______ the amount of environment is needed to have diseaseas
the lower the threshold the __ less____ the amount of environment is needed to have diseaseas
recurrence risk is _______ when proband belongs to less commonly affect sex
recurrence risk is __ higher_____ when proband belongs to less commonly affect sex
which one women or male has
higher recurrence risk
higher occurrence risk
has a higher threshold
female has higher recurrance and male has higher occurrence risk
female has higher threshold
higher monozygotic twin more prevelent dz means genetic influence is _____
large
Heritability estimation equation
h=2(Cmz-Cdz)
polypoidy usually occurs due to
dispermy which is the fertilization of an ovum by two sperm cells
difference between aneuploidy and polypoidy and what causes them
aneuploidy is copy of single chromosome (due to nondisjunction)
polypoidy is copy of entire chromosome set (dispermy)
trisomy and monosoy is what type
anueploidy
non disjunction during meiosis 2 causes
2 normal 1 trisomy and 1 monosomy
non disjunction during meiosis 1 causes
2 trisomy and 2 monosomy
down syndrome
karyotype cause and characteristics
3 copies of trisomy 21
-95% usually cuased by nondisjunction in mothers 90%
-5% due to robertsonian translocation
edward syndrom
karyotype cause and characteristics
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
patau syndrome
karyotype and characteristics
trisomu 13
nondisjunction
nondisjunction
r. translocation
turner syndrome
karyotype and characteristics
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
klinefelter
karyotype and characteristics
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
what trisomy is most common chromosome abn in stillborn
trisomy 18 edward
What is sry
sex derermining region on Y
what is the difference between reciprocal and robertsonian translocation
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
R. Translocation and their commone chromosome
21, 14
