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46 Cards in this Set

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  • Back
The aneuploidy diseases we learned in lecture.
Down's Syndrome
Edward's Syndrome
Turner's Syndrome
The autosomal dominant diseases we learned in lecture.
Tuberus Sclerosis Complex
Osteogenesis Imperfecta
AD polycystic kidney disease
Familial Hypercholesterolemia
What autosomal recessive diseases did we about in lecture?
Lysosomal storage disease
Glycogen storage
What week of gestation is chorionic villus sampling and amniocentesis performed?
Chorionic villus - 6 to 7 weeks
Amniocentesis - 18 weeks
Phenotypic features of Down's syndrome.
1) mid-facial hypoplasia
2) atrio-ventricular canal (40% of down's babies with heart problems have this)
3) Epicanthal folds in front of eye
4) single palmer crease
5) sandal toe deformity
6) clinodactyly - in-turning of little finger
7) low-set, malformed ears
8) hypotonia - esp in tongue
9) nuchal hygroma (due to stretched neck, abnormal lymph drainage in-utero
10) brushfield's spots - hypopigemented spots on iris
Edward's syndrome forms from trisomy in what chromosome?
Chr 18
Key phenotypic features of edward's syndrome?
- first and fourth finger overlap middle two
- severe mental retardation
- missing radius bone, thus missing thumb
- rocker bottom feet
- dorsiflexion of big toe
- omphalocoel of gut
- 95% die in utero
Phenotypic features of turner's syndrome?
- coarctation of aorta, so you don't have good blood perfusion to lower extremeties
- nuchal hygroma - swelling in back on neck
- short stature, wide nipples, shield chest
- enlarged ears, recessed hairline
- edema in hands/feet - due to lymphatic drainage problems
Clinical characteristics of AD disorders?
- reduced penetrance: genotype present, but phenotype normal
- expressivity: severity and constellation differ
- delayed age of onset often
- affect regulators of complex pathways (usually not enzymes)
What is the genotype of a type I neurofibromatosis?
defect in tumor supressor gene neurofibromin
Clinical features of NF type I?
Cafe au lait spots - >6
Axillary freckles - diagnosed as child
Neurofibromas - peripheral nerve tumors, subcutaneous, "bag of worms"
CNS: optic nerve gliomas, acoustic nerve neuromas (1 side), meningiomas (tumor of dura)
The characteristics of a neurofibroma in a person with NF?
Bag of worms appearance, has pascinian corpuscles (mechanoreceptors) and spindle cells (bad!)
What appearance does tissue in the back of the eye take for NF patients with optic gliomas?
Blanched (white) look due to blocking of opthalmic artery
What subtypes of tuberous sclerosis complex are we concerned with most? How many cases are due to new mutations?
Type 1 and Type 2 are most common. And 50-75% of these cases are due to new mutation.
TSC 1 and 2 comes form what malformed genes?
TSC-1: hamartin
TSC-2: tuberin
(these are the first hit?)
Classical phenotypic triad characteristics of TSC?
mental retardation - not all have this
epilepsy - most of this
adenoma sebaceum - all of this
CNS and Skin Phenotype characteristics of TSC?
1) CNS - seizures due to subependymal calcification of tumors. Olfactory hamartomas in infants.
2) skin - adenoma sebaceum: acne like skin, bilateral, symmetrical. AND "ashleaf spots" seen by Wood's lamp examination, hypopigmented area that you need UV light to see
Visceral characteristics of TSC?
1) cardiac rhabdomyoma - hamartoma in the heart, benign tumor, can lead to ball valve that obstructs blood flow
2) renal angiomyolipoma - hamartomas that include vessels, muscle, fat in the kidney. Develop renal cysts. Risk of rupture
3) astrocytic hamartomas in back of eye "mulberry like".

extra: pulmonary cysts, lymphatic abnormaliteis, gingival fibromas
OI results in what?
50% decrease in collagen type I, osteopenia (decrease bone), osteoporosis, skeletal malformation,
OI type 1 and 2 significance?
type 1 - most common
type 2 - lethal
features of OI type 1
- excessive bone fragility (90% penetrance)
- easy bruising, short stature, kyphosis, joint hypermobility,
- hearing loss (ear bones)
- blue sclera (100% penetrant), most common in type 1/4
Ehlers-Danlos has multiple types of inheritance, what is the most common? (AD, AR, Xlinked, ect)
Autosomal Dominant
Patients with the vascular variant of Ehlers-Danlos could develop what in the aorta?
Aortic cysts
What causes Marfan's syndrome?
Defect in the Fibrillin gene on the 15th chromosome, decrease in fibrillin, so improper elastin array in blood vessels .
Phenotypic characteristics of Marfan's syndrome?
Tall, slender, with long arms, arachnodactyly (long fingers), thumb sign, wrist sign, Pectus excavatum - pigeon, caved chest
What are the major problems in Marfan's?
- aortic dissection
- aortic regurgitation
- lens displacement, optic glob elongation, flat corneas, retinal detachment, increased risk for glaucoma and cateracts
- tooth crowding
What is the penetrance for polycystic kidney disease?
What causes polycystic kidney disease?
cilia dysfunction, kidneys can't excrete fluid
PKD causes what other major problems outside of the kidney?
- berry anyeurism in circile of willis
- mitral valve prolapse
- liver cysts
clinical features of lipoprotein disorders?
- premature atherosclerosis
- pancreatitis (elevated chylomicrons)
- retinal/neurological disease - vit E deficiency due to low VDL/LDL)
What causes the diff lipoprotein deficiencies?
Type IIa - LDL receptor deficiency
Type IIb - LDL receptor problems
Lipoprotein disorders Type IIa and IIb effect what?
LDL released from fats cannot get into liver due to no receptor, so the accumulate in arteries
Difference in homo and heterozygous familial hypercholesterolemia IIa?
Homo - more severe, childhood onset
Heterzygous, milder
- tendon xanthomas, extra ear folds
Other risks: aortic stenosis murmur, MI
Where do you see early arcus senilis?
In patients with hypercholesterolemia. (ring around eyes)
When enzyme is often defective in lysosomal storage disease?
acid hydrolase
What are the clinical features of tay sach's?
- 3-6 months age of onset
-2-5 yrs death occurs
- retinal cherry red spot
- easily startled
- seizures, blindness, deafness, hypotonia, paralysis
What enzyme is deficient in Tay Sachs?
Hexoaminidase A, leads to accumulation of ganglioside G2, a complex lipid, in neurons and macrophages
What chromosome is mutated in Tay Sachs?
Chr 15
the fovea centralis, being thinner, allow the cherry red spot to appear in Tay Sachs disease in the macula densa.
true. don't know why she emphasized this.
Characteristics of Niemann PIck Disease.
defect in sphingomyelinase, seen in neurons, causes psychomotor retardation
- Cells have bubbly appearance in ganglion, cells missing sphingomyelinase, zebra bodies in lysosomes
- also has cherry red spot on macula
- increase size in spleen and liver
Lysosomal storage disease affecting glycogen breakdown?
Type I - Von Gierke: defect in 1st enzyme needed for breakdown (glucose-6-phosphatase). Big problem, can't get sugar to brain. Causes hypoglycemia, seizures, hepatomegaly, death early age. BUT you can treat with enzymes
Type V - MacArdle's. Glycogen can't be broken down in muscles. Increase in cramps, no lactate used, myoglobinuria
Type II - Pompe's. Acid maltase deficiency, involves heart. Glycogen just floating in cytoplasm. Death w/o enzyme replacement
LSD involved in glycosaminoglycans
Hurler MPS Type I - MR, progressive CT Increase with coarse facies, face stiffness, small stature, large heads, CORNEAL CLOUDINGdeath due to cardiac failure
Hurlers Type II - everything above, but with no corneal clouding
Alpha-1-antitrypsin deficiency. Tell me about it.
- causes panacinar emphysema
- decrease protection from proteases, destruction of alveoli
- cirhosis in liver due to accumulation
stages of gout
1) asymptomatic hyperuricemia, no symptoms before age 30
2) sudden, painful acute arthritis
primary gout vs. secondary gout
primary - overproduction of uric acid
secondary - like chemo that destroys DNA, causes purine breakdown
treat gout?
- hydration
- cholchicine
- allopurinol