Genetics Flashcards
(86 cards)
1
Q
Terms
- Heteroplasmy
- Variable expression
- Incomplete penetrance
- Loss heterozygosity
- Imprinting
- Pleiotropy
- Anticipation
- Mosaicism
A
- we have 2 types gnetic material, nuclear DNA and mito DNA
- 2 people with same mutation look differently
- even though genotype shows mutation not everyone shows it phenotypically
- need 2 mutations in order to become dangerous -> CA
- one chromosome is silenced and other chromosome has mutation
- one mutation presents with problems in multiple systems (marfans)
- severity of dx is worse and age of presentation is earlier with each generation
- not all cells have the mutation, so some cells normal and others have problem
2
Q
How to figure out pedigree
- affect mult gen w/ male to male transmission
- affect mult gen w/o male to male transmission and males pass to all daughters
- does not affect all gen and affects both males and females
- does not affect all gen and affects mostly males
- all children of affected female have it but none of the children from affected male have it
A
- auto dom
- X-linked dom
- auto recessive
- X-linked recessive
- mitochondrial
3
Q
AD characteristics
- what is affected?
- generations affected?
- onset
A
- structural proteins
- all
- late
4
Q
AR characteristics
- what is affected
- onset
- generations affected?
A
- enzymes
- early
- skips
5
Q
XLR characteristics
- pts at risk
- transmission
- generations
A
- male bc only have one X so not as protected as females
- no male to male transmission
- skips
6
Q
XLD characteristics
- pts at risk
- transmission
- generations
A
- male
- no male to male, but a;; male pass to daughters and all females can pass to daughters and sons
- does not skip generations
7
Q
Mito inhertiance
- who is affected
- sxs
A
- all children of affected female but no children of affected male
- neuropathies and myopathies
8
Q
Auto Dom DX
- Very (2)
- Powerful
- Likable
- ReSpectable
- D
- O (2)
- M
- I
- N
- A (2)
- N
- T (2)
- Humans (7)
- get Jobs
A
- Von willdebrand and Von Hippel
- Pseudo hypoparathyroidism
- Li-Fraumeni
- RB, Sturge Weber
- Dystrophia myotonica
- Osteo imperfects and Osler weber
- Marfans
- Intermittent porphyria
- Neurofibromatosis
- Achondroplasia and Adult polycystic kidney
- Noonan syndrome
- Tuberous scelrosis, tremor
- Hypercholesterol, HCM, Hereditary spherocytosis, hereditary non polyposis, hereditary hemmorrhagic telangectasia, Huntingtons, Hypokalemic periodic paralysis
- Job syndrome
9
Q
Job syndrome
- also known as
- gene
- problem
- sxs (FATED)
- skeleton sxs
A
- Hyper IgE
- STAT3
- decrease INF gamma by Th1
- coarse face, abcess, teeth, high IgE, derm problems (eczema)
- scoliosis and osteopenia
10
Q
Li Fraumeni Syndrome
- what is it
- caused by
- inheritance
- sxs
- family hx
- types
A
- genetic predisposition to early dev of CA
- mutation in p53 -> allows for progression to S phase even w/ DNA damage
- one mutant allele and then damage to 2nd allele
- development of malignant tumors in people younger than 45
- mult CA in ppl younger than 45
- breast, adrenal, brain, blood
11
Q
Acute Intermittent Porphyria
- what is it
- caused by
- sxs
- precipitated by
A
- heme production disturbed
- phorphobilinogen deaminase deficiency
- abd pain, peripheral neuropathy, CNS signs, port wine urine, w/o rash
- drugs
12
Q
Von Hippel Lindau
- gene
- causes
- DX
- management
A
- VHL gene
- accumulation of HIF-1a which is usually made when hypoxic and increases EPO and VEGF
- family history + hemangioblastoma OR renal cell carcinoma
- routine screening for tumors w/ early recognition and symptomatic tx
13
Q
Von Willebrand
- what is it
- types 1,2,3
- chrom
- pathway
- sxs
- DX
- TX for 1 and 2a
- TX for 2b and 3
A
- VWF deficiency
- 1: AD, quantitative defect; 2a: AD, qualitative defect; 2b: hyperbinding of vWF to platelet; 3: AR, absence of vWF
- 12
- vWF from endo cannot bind onto GpIb to allow for platelet yo expose GpIIb-IIIa for binding to other platelets to create platelet meshwork
- superficial bleeding (nose, bleeding gum, heavy period, easy bruising)
- measure quantity of vWF with assay, measure function of vWF with Ristocetin assay (only causes aggregation in presence of vWF),
- Desmopressin -> stimulates release of vWF from weibel palade bodies of endo cells
14
Q
Essential tremor
- worsens
- commonly located in
- classically improved by
- management
A
- w/ activity
- UE
- EtOH consumption
- propanolol -> beta blocker -> decrease muscle responding
15
Q
Retinoblastoma
- what is it
- mutation
- pathway
- screening
- sxs
A
- retinal CA
- mutation of RB1 on chrom 13
- RB continuously phosphorylated by CDk2-cyclin A complex causing it to stop inhibiting E2F and allowing for continuation of cell cycle from G1 to S
- red reflex
- leukocoria, decrease in vision, irritation of eye, glaucoma, strabisumus
16
Q
Marfans
- mutation of
- protein affected
- heart findings
- lung complications
- spine complications
- pehno sxs
- eye complications
- marfanoid syndromes
A
- Fb1 on chrom 15
- fibrillin-1 glycoprotein -> part of ECM and causes abnormal elastin
- thoracic aortic aneursym
- spontaneous pneumo
- dural ectasia -> weakened dural sac that causes back pain
- tall, arachnodactyly,
- lens dislocation
- homocysteinuria, ehler danlos, sticklers (flat face, myopia, cleft palate), MEN2b
17
Q
Osteogenesis Imperfecta
- what is it
- biochem problem
- sxs
A
- deficiency of type 1 collagen causing bone fragility
- glycine replaced with bulky AA
- bone fragility, loose joints, poor muscle tone, blue sclera
18
Q
Osler- Weber- Rendu
- also known as
- causes
A
- hereditary hemmorrhagic telangiectasia
- blood vessel disorder in skin, mucous membranes of lips/ oronasopharynx/ resp tract / GI tract/ GU tract/ brain/ liver/ spleen
19
Q
Familial Hypercholesterolemia
- mutation of
- location
- findings
- high risk of
- family hx
A
- LDLR gene
- chrom 19
- xanthelasma and thendon xanthomas
- CAD, MI
- healthy family w/ members who have died young from MI
20
Q
Huntingtons
- What is it, gene affected, chromosome
- what AA
- causes
- gross
- sxs
A
- Tri nuc repeat of CAG on HTT gene on chrom 4
- CAG codes for glutamine
- repressed / silenced transcription of other genes
- caudate atrophy
- chorea (writhing motion), abnrml facial expressions and inability to stop and start actions, aggression, depression, loss of cognitive planning and thinking and memory
21
Q
Hypokalemic periodic paralysis
- caused by
- type 1: type of channel, chrom
- type 2: type of channel, chrom
- sxs
- location
- when
- trigger
- tx
A
- rapid drops in blood potassium
- CACNA1S voltage gated Ca channel in T tubule, chrom 1
- SCN4A voltage gated Na channel in NMJ, chrom 17
- muscle weakness and transient paralysis (hours to days)
- hips or shoulders
- begin in adolescence and occurs after exercise
- EtOH and high carb/ Na meals
- focus on preventing future attacks and avoid triggers
22
Q
Achondroplasia
- caused by
- sxs
A
- glycine replaced with arginine in FGFR3 gene
- frontal and parietal bossing, short nose, normal torso length w/ short limbs
23
Q
Adult Polycystic Kidney Dx
- presents
- mutations
- sxs
A
- between 30 and 40 yrs old
- PKD1 (chrom 16, reg of cell cylce and Ca transport in epi cells), PKD2, PKD3
- back pain, UTI, renal colic, nephrolithiasis and cysts on kidneys
24
Q
Hereditary Spherocytosis
- caused by
- shape
- MCHC
- RDW
- Osmotic fragility
A
- mutation in ankyrin which attaches proteins to apectrin membrane skeleton
- sphere shaped RBS w/o central pallor
- MCHC: concentration of hemoglobin in RBC -> increased
- RDW: variation in size of RBC -> increased bc have variable sizes of RBC in this dx
- RBC will lyse under stress from water pulling on their membranes
25
Sturge- Weber syndrome
- type of disorder
- gene
- caused by
- skin sxs
- neuro sxs
- ocular sxs
- neuro- oculo- cutaneous syndrome
- GNAQ gene - chrom 9
- embryo developmental anomaly and malformation of blood vessels in pia mater
- port wine stain on forehead or upper eyelid on one side of face
- seizure in infancy w/ muscle weakness on side of body opp bithmark; developmental and cognitive delay
- 50% will have glaucoma
26
Tuberous Sclerosis
- what is it
- mutation of
- causes
- needs
- location
- sxs
- multi- organ disorder that allows for non-malignant tumors to grow abundantly
- TSC1 and TSC2 -> Hamartin and tuberin
- Hamartia (malformed issue) and Hamartomas (benign growth)
- 1 inherited copy and other mutated copy
- heart, kidney, eye, lung, skin, brain
- seizures, developmental difficulties, autism, ash leaf spot (hypomelanin)
27
Schwannoma
- other name
- location
- c8 compression
- c7 compression
- c5 compression
- increased risk of
- Neurofibromatosis 2
- cerebellopontine angle
- can cause cochlear (sensorineural hearing loss) or vestibular problems (vertigo, nystagmus)
- paralysis of facial expression muscles and taste in ant 2/3 tongue
- loss sensation around mouth, nose, and corneal reflex, w/ paralysis of muscles of mastication
- meningioma and ependymomas
28
Myotonic Dystophy
- what is it
- type disorder
- main problem
- other problems
- type 1: name, gene, chrom, repeat, location, prognosis, characteristics, endo problems
- type 2: name, gene, chrom, repeat, location, systemic disorders
- chronic, slowly progressive muscle disease
- Tri nuc repeat (CTG)
- progressive wasting and weakness of muscles w/ prolonged muscle contraction
- cardiac, endocrine, visual
- severe congenital form, DMPK gene, chrom 19, CTG, muscle weakness in face/ neck/ hands/ lower legs, slowly progresses, long face w/ hanging jaw, DM
- proximal myotonic myopathy, CNPB gene, chrom 3, CCTG, muscle weakness in hips/ elbow/ shoulder/ neck, systemic disorder absent
29
Familial Adenomatous Polyposis
- gene
- findings, what age
- sequlae
- APC -> normally suppresses tumors
- numerous polyps develop from intestine epi in teenage years
- polyps will become malignant unless removed
30
Alkaptonuria
- deficiency of
- mutation of
- can't
- build up
- findings infant
- findings adult
- outcome
- homogentisic acid oxidase
- HGD gene
- break down tyrosine and phenylalanine
- homogentisic acid
- dark urine when standing or when ferric chloride added
- arthritis, dark spots on sclera or cornea, dark ear
- good
31
Ataxia Telangiectasia
- defect in
- gene
- affects
- findings
- DNA repair and cell division
- ATM
- nervous system and immune system
- ataxia before 5, chorea, chronic sinopulm infections, increase CA risk (leukemia and lymphoma), telangectasia in eyes and skin, oculomotor apraxia
32
Albinism
- caused by
- normal function
- affects
- tyrosinase deficiency
- tyrosine -> dopa -> melanin
- eye and skin
33
Alpha- 1- antitrypsin def
- what is it
- type of emphysema
- other sxs
- loss of protection for liver and lungs from tissue destroying proteases
- panacinar
- pulm (chronic lung infection, SOB) and hepatic findings
34
Beta Thalassemia
- gene, chrom
- minor vs major
- intermedia
- HBB gene on chrom 11
- minor is one gene missing (under production of beta chain) and major is both genes missing (severe anemia ensues)
- mutation in kozak sequence of beta globin gene w/ hypochromic, microcytic anemia
35
Cystic Fibrosis
- mutation
- chrom
- deletion of
- what is normal protein function
- leads to in lungs
- leads to in glands
- leads to in GI
- 10% experience
- bacteria
- management
- CFTR Delta F508
- chrom 7
- phenyalanine
- ATP transmembrane ion transporter that pumps Cl out of epi cells
- increased mucus secretion in lungs with thickened SM
- hypertonic fluid in gland w/ salty skin
- leads to decreased caloric absorption and decrease in fat-soluble vitamins
- rectal prolapse
- staph aureus, H influenzae, pseudomonas
- maintain lung function by clearing airway of mucus w/ N-acetylcysteine and dornase alpha; controling lung infection; and providing caloric/ nutritional supplementation
36
21- Hydroxylase def
- cant make
- high
- sxs
- cortisol or aldosterone
- sex hormones
- virilization of female and slat wasting for male
37
Chediak higashi syndrome
- gene
- impairs
- effects on lysosome
- affects on skin, immuno, neuro
- LYST gene
- impair lysosomal role
- lysosomes become enlarged, disrupted, size, structure and function
- causes albinism (ocular and skin), immune system defects (unable to create phagolysosome) and neuro defects (nystagmus and peripheral neuropathy)
38
Dubin Johnson
- mutation
- leads to
- sxs
- gross liver
- ABCC2 gene codes for MRP2 protein -> normally takes conj bili into the bile duct
- high conj hyper bili
- dark urine since conj bili is water soluble
- liver will be black because of epi metabolites
39
Friedrich Ataxia
- kind of mutation, chrom
- low levels of
- age
- cardiac problems
- endocrine problems
- skeletal problems
- tri nuc repeat, GAA ; 9
- Frataxin -> mito protein -> nervous tissue destruction in dorsal columns
- 5-15 yrs
- HCM
- DM
- kyphoscoliosis, pex cavus
40
Galactosuria
- gene
- deficiency of
- causes
- sxs
- complications
- tx
- mutation of GALK1 on chrom 17
- galactokinase
- spilling of galactose in urine
- polyuria and polydipsia
- cataracts bc of accumulation of galacticol in lens
- eliminate lactose and galactose from diet
41
Galactosemia
- what is it
- leads to
- complication
- prognosis
- tx
- dx
- deficient of galactose 1 phosphate uridyl transferase
- leads to accumulation of galactose 1 phosphate
- feeding problems, failure to thrive, liver damage, bleeding
- with liver damage will not be able to get rid of ammonia and will lead to sepsis and death
- eliminate galactose from diet
- part of newborn screening
42
Gauchers dx
- type dx
- deficient enzyme
- leads to
- histo
- body parts affected
- type 1
- type 2
- type 3
- lysosomal storage dx
- beta gluco-cerebrosidase
- build up of glucocerebroside in cells
- crumpled paper macrophages
- liver, spleen, kidney, lungs, brain, bone marrow
- HSM
- HSM, neuro findings, brain damage, death by age 2
- slow progressing neuro sxs, live till early adult hood; can try enzyme replacement to prolong life
43
GM1 gangliosidosis
- caused by
- early infantile
- late infantile
- adult
- def of beta galactosidase
- neurodegeneration, seizure, HSM
- between 1-3 yrs old; ataxia, seizure
- muscle atrophy, less severe and slower neuro findings
44
GM2 gangliosidosis
- other name
- caused by
- sxs
- dx
- tx
- prognosis
- Tay sachs
- beta hexosaminidase A -> normally in lysosome; lipids accumulate in nervous tissue
- cherry red macula, blindness, hearing loss, myoclonus, optic atrophy,
- enzyme assays
- none
- death by 2
45
Hartnups
- mutation
- chromosome
- affects
- leads to
- findings
- mgmnt
- SLC6A19
- chrom 5
- affects absorption of tryptophan
- no serotonin, melatonin, niacin
- pellagra (dermatitis, diarrhea, dementia, death), ataxia, nystagmus, photosensitivity, increase AA in urine
- high protein diet and avoid sunlight and drugs that cause photosensitivity (NSAID, diuretic, quinilone, tetracycline)
46
```
Hurlers
- kind of dx
- mutation
- build up
- sxs
therapy
- prognosis
```
- lysosomal storage dx
- IDUA gene, chrom 4
- build up of GAGs, Heparan and dermatan
- umbilical hernia, HSM, dwarfism, large head, blind, deaf
- enzyme replacement or gene therapy / stem cell transplant
- death by 1st decade of life
47
Hemochromatosis
- mutation
- causes
- stain
- sxs
- worst case
HFE gene on chrom 6
- abnormally high absorption of iron from GI (basolateral surface of small intestine)
- prussian blue stain
- bronze, diabetes and restrictive cardiomyopathy
- liver cirrhosis and HCC
48
Krabbe Dx
- mutation
- def of
- build up of
- time frame
- sxs
- tx
- GALC gene on chrom 14
- galactocerebrosidase
- build up of lipids causes degeneration of myelin sheath
- 3-6 month after birth
- irritable, fever, feeding difficulty, vomiting, seizure
- Bone marrow transplant
49
Kartageners Dx
- what is it
- mutation
- sxs
- primary ciliary dyskinesia
- Dynein protein defect leads to dynein arm defect
- pulm infections, situs inversus, infertility ( fallopian tube will not work and sperm does not work)
50
Leukocyte Adhesion Deficiency
- absence of
- disturbs
- signs
- key sign
- CD 18
- formation of integrins which allow for migration of leukocyte from vascular space to tissue
- late separation of umbilical cord, poor wound healing, gingival inflammation
- will not have pus since PMNs cant get into infection site
51
Maple syrup urine Dx
- deficiency
- normally does what
- which AA
- sxs
- sequlae
- tx
- branched chain alpha keto acid DH complex
- usually allows for formation of succinyl CoA or acetly CoA from branched chain AA
- Leucine, Isoleucine, Valine
- sweet smelling urine caused by sotolol; poor feeding, N/V, dehydration
- quickly deterioate causing brain damage and cerebral edema and suffer from DKA and hypoglycemia
- avoid food with branched chain AA
52
Metachromatic Leukodystrophy
- what is it
- deficient in
- causes
- late infantile
- juvenile
- adult
- prognosis
- lysosomal storage dx
- def arylsulfatase A
- altered myelin causing build up of sulfatide in tissue
- developmental delay, difficulty walking around 2nd yr of life, muscle weakness
- 3-10 yrs; poor school performance w/ mental deterioration, dementia
- after 16 yrs with psych disturbance that progress to dementia
- terminal
53
Sickle Cell
- hemolysis
- vaso-occlusive
- infections
- hemolysis: repeated sickling causes premature RBC destruction
- vaso-occlusive sx: pain bc of small infarctions (uually in hands and feet)
- infections of encapsulated org
54
PKU
- deficient in
- causes
- tx
- phenylalanine hydroxylase
- cannot convert phenylalanine to tyrosine
- decrease phenylalanine from diet and supplement tyrosine
55
Wilsons Dx
- what is it
- mutation
- liver problems
- eye problems
- heart problems
- kidney problems
- parathyroid problems
- brain problems
- tx
- toxic accumulation of copper in tissues
- ATP7B, chrom 13 -> copper cannot get into ceruloplasmin to be released into plasma and is trapped in liver
- cirrhosis
- kayser fleischer rings
- cardiomyopathy
renal tubular acidosis
- parathyroid dysfunction -> hypo parathyoid
- accumulates in basal ganglia and causes parkinsonian sxs, seizures, and dementia
- chelation with penicillamine
56
X- linked dominant diseases
- alport, rett, rickets
57
Alport
- mutation
- leads to
- triad of problems
- management
- COL4A3, A4, A5
- improper production of type 4 collagen
- visual problems, deafness, glomerulonephritis
- ACE inhibitor for proteinuria and hemodialysis
58
Rett
- mutation
- epi
- normal until
- then sxs of
- head
- pts act
- findings
- heart sequlae
- GI sequelae
- skeletal sequelae
- MECP2 gene on x chrom
- female
- 6-18 months
- development ceases and regression of motor and language abilities
- head growth slows
- patients begin to act autistic
- crying and screaming fits, no social interaction, hand ringing, gait disturbnaces, chorea movements
- long QT syndrome -> beta blockers
- reflux
- scoliosis
59
Ricketts
- mutation of
- causes
- management
- male vs female
- PHEX on X chrom
- peeing out phosphate, and Ca follows
- oral phosphate + calcitrol
- males bow outward, and females bow inward
60
Ornithine Transcarbamoylase Def
- genetic
- causes
- sxs
- x- linked recessive
- hyperammonemia bc unable to eliminate urea
- newborn unwilling to eat, seizure, cant regulate temp or breathing
61
Red-green color blindness
- genetic
- caused by
- x- linked recessive
| - absence of red or green photoreceptors
62
Deuchenne
- mutation of
- codes for and function
- epi
- gowers
- sequlae
- mgmnt
- prognosis
- dytrophin gene (X p 21)
- dystrophin which connects skeleton of each muscle to basal lamina
- seen in males before 6 yrs old
- crawls hands up legs to straighten torso
- progressive loss of walking by 12 and muscle replaced by fatty tissue
- steroid, beta 2 agonist, respiratory support
- 25 yrs old at most
63
Beckers
- difference from deuchenne
- prognosis
- dytrophin is decreased, not absent
| - lives till 40
64
Hemo A
- genetic
- deficient in
- bleeding location
- DX
- TX
- XLR
- clotting 8
- joints, muscles, GI, brain
- PTT elevated, PT and bleeding time normal
- replenish factor 8
65
Hemo B
- genetics
- deficient in
- sxs
- labs
- tx
- XLR
- factor 9
- deep bleeding
- low factor 9, with high PTT and normal PT and bleeding time
- infusion of 9
66
X- linked mental retardation
- genetic
- sxs
- need
- 200 genes involved
- developmental delay or mental retardation
- need family hx
67
X-linked SCID
- mutation
- causes
- prone to
- IL2- RG gene
- T cell and NK cell production decreased
- candida infection, recurring eczema
68
G6PDH deficiency
- part of
- sxs
- caused by
- labs
- peripheral smear
- pentose phosphate shunt which makes NADPH and reduced glutathione
- hemolytic anemia since RBC are no longer protected from oxidative stress, pallor, dark urine, SOB, splenomegaly
- drugs (anti-malarial, sulfa, nitro, aspirin), fava beans, infections, DKA
- indirect hyperbili and anemia
- BITE cells, heinz bodies, reticulocytosis
69
Mito Dx
- lebers hereditary optic neuropathy, DAD, leigh syndrome, MERRF syndrome
70
Leber
- mutations
- causes
- presentation
- management
- ND1, ND4, or ND6 on complex 1 of ETC
- degeneration of retinal ganglion cells and axons
- acute / subacute loss central vision
- Idebenone -> electron transporter that helps ETC
71
DAD
| - stand for
- Diabetes and deafness
- LEU-UUR gene that codes for tRNA
- Type 1 DM and sensorineural deafness
72
Leigh syndrome
- AKA
- mutation
- time frame
- sxs
- management
- MRI
- subacute necrotiziing encephalomyopathy
- SURF-1 gene -> codes for complex 4 of ETC
- infancy, after viral infection
- poor sucking, hypotonia, developmental delay or regression
- none
- radio-dense area on brain
73
MERRF syndrome
- mutation
- time frame
- sxs
- sequelae
- tx
- MT genes involved
- childhood or adolesence
- progressive myoclonic epilepsy, ataxia, weakness, lactic acidosis, short, exercise intolerance
- Wolff parkinson white syndrome
- none
74
Tri-nucleotide repeat disorders
| - name them
- Huntingtons
- Spinocerebellar ataxia
- Friedrich ataxia
- Fragile X
- Myotonic dystrophy
75
Fragile X
- most common cause of
- repeat
- sxs
- intellectual disability in males
- CGG triplet in FMR1 gene
- mental retardation, elongated face, large ears, big gonads, mitral valve prolapse
76
Turners
- genetic
- mosaicism
- most common characterisics
- ovaries
- kidney
- heart/ vessels
- puberty
- management
- cenception
- 45 XO
- 30%
- short, webbed neck, short 4th metcarpal
- ovarian dysgenesis (replaced with fat)
- horseshoe kidney
- coarctation of aorta, bicuspid aortic valve
- wont undergo puberty unless given hormones
- give growth hormones and sex hormones
- can be cadidate for IVF but not likely
77
Cri du Chat
- caused by
- charactersitic of
- problems
- partial deletion of short arm of chrom 5, monosomy
- cat lke cry, outgrow by 2
- feeding problem, cognitive / speech / motor delay, lots of drooling, wide eyes
78
Patau
- genetics
- sxs
- extra chrom 13
| - low ears, polydactyly, cleft palate, fingers overlap thumb, abd wall defects
79
Edwards Syndrome
- genetics
- sxs
- extra chrom 18
- low ear, prominent occiput, micrognathia (small lower jaw), microstomia (small mouth), clenched hands with overlapping fingers, rockerbottom feet
80
Downs Syndrome
- genetics
- triple test
- mentally
- life expectancy
- physical appearance
- cardiac
- hemat
- immuno
- vasc
- endo
- neuro
- GI
- extra chrom 21
- beta HCG, estriol, low AFP (high AFP with NT defects)
- IQ of 50
- 60 yrs
- low set ears, palpebral fissure, flat nose, hypotnic, single palm fold, protruding tongue
- ASD and VSD
- AML and ALL
- high risk infections and AI dx
- atherosclerosis
- Type 1 DM, hypothyroid, infertility
- early onset alzheimers (extra APP), mental retardation
- Hirschsprung dx (no neuro to colon), GERD, celiac dx
81
Klinefelters
- genetics
- phenotype
- presents
- sex hormones
- tx
- 47, XXY
- tall w/ gynecomastia
- at puberty, gonads stay small
- high LH and FSH, low testosterone (absent facial and body hair)
- testosterone so that secondary sex characteristics can develop
82
DiGeorge Syndrome
- genetics
- problem
- catch 22
- 22 q 11.2
- 3rd and 4th pharyngeal pouch dont develop -> paraythroid and thymic aplasia
- cardiac abnormalities (tetrology of fallot), adnormal face, thymic aplasia, cleft palate, hypocalcemia
83
Angelman
- mutation
- mentally
- physically
- deletion of genes on moms chrom 15
- mental delay
- hand flapping, frequent smiling and laughing
84
Prader-willi
- mutation
- physically
- mentally
- deletion on fathers chrom 15
- short, hypotonia, elongated face, thin lip
- hyperphagia
85
Alzheimers
- age
- mutation early
- mutation late
- pathogenesis
- early is before 60
- APP on chrom 21, presenilin 1 on chrom 14, and presinilen 2 on chrom 1
- APOE4 allele for apolipoprotein E
- neurofibrillary tangles inside neuron and amyloid beta protein outside neuron around axons and dendrites
86
Hardy Weinberg
- equation
- p
- q
- p^2
- q^2
- 2pq
- p^2 + 2pq + q^2 = 1
- frequency of dom allele
- frequency of recessive allele
- percentage of homo dominant
- percentage of homo recessive
- percentage of hetero
