Genetic dosorders
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| show | Arachnodactyli, ectopic lens, pigeon/hollow chest, joint hypermobility, mitral valve prolapse, dissecting Aorta
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| show | Marfan is AD therefore it is a structural component that is missing, namely fibrillin (a component of elastic fibers in c.t.)
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| What are two characteristics of AD disorders? | show 🗑
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| show | Extreme joint hyperflexibility cutanous fagility Cigarette paper skin hyperbleeding tendency (Note: sutures wont hold well in their skin)
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| What are Ehler Danlos type I and II caused by (classical Ehler Danlos)? | show 🗑
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| show | A Mutation in the COL3A1 gene resulting in Decreased amount of type III collagen called reticulin.
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| What do Ehler Danlos types I, II, IV most prone to? | show 🗑
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| show | Patient must have present more than one of the hypermobility/flexibility maneuvers for the joints of skin.
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| What are the phenotypic characteristics of Neurofibromatosis Type 1? What are the diagnostic criteria? | show 🗑
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| What is the cause of Neurofibromatosis type 1? | show 🗑
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| What are the phenotypic characteristic of Neurofibromatosis Type 2? | show 🗑
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| What is the difference between Schwannoma vs. Neurofibroma? | show 🗑
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| What is the significance of HEreditary Hypercholesterolemia? (FH) | show 🗑
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| What do you look for phentypically with Familial Hypercholesterolemia? | show 🗑
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| What is the underlying probem with Familial Hypercholesterolemia? | show 🗑
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| show | Autosomal recessive because they all have to do with a deficiency of an enzyme in the lysosome.
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| show | A mutation in the gene encoding for the Beta-glucocerebrosidease on Choromosome 1q. (Most carriers have about 50% activity of the enzyme)>
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| How does the Gaucher's patient present? Why? | show 🗑
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| show | With a bone marrow aspiration and biopsy.
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| show | Type I (adult)- Most common and non neuronopathic. Compatible with healthy life. Common in Ashken Jews. Enlarged spleen, liver and lymph nodes, with bone skeletal problems. (Romantic fractures) Type II (infantile) & III (juvelile)Eare rare and neuropathic
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| What is the problem with Pompe (type II glycogenosis) disease? | show 🗑
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| show | Floppy baby syndrome, macroglossia, poor motor development, respiratory problems, failure to thrive, large QRS complexes, cardiomyopathy and cardiomegaly. Accumulation of glycogen in all lysosomes of the body. Banana shaped ventricular cavity).
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| show | Hexoaminidase A deficency b/c of a frameshift mutation in the HexA gene on chromosome 15q . Leads to an accumulation of GM2-ganglioside (swirls). High prevalence in Ashkenazi Jews, death before age 4. (Ballooned neurons). Also note Cherry red macula.
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| show | Patau syndrome
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| show | Edwards syndrome
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| Trisomy 21 | show 🗑
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| show | hypotonia, simmian crease, clinodactyly, epicanthal folds, upslanting eyes, open mouth, protruding tongue, opacity of pupil (brushfield spot), low set ears, depressed nasal bridge
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| show | Congenital heart defects, VSD, hypothyroidism, hearing impairment, duodenal atresia, mitral valve prolapse, Alzheimer's d/s >40yo
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| show | 95% --> extra chromosome 21 b/c of nondisjunction in meiosis I 2% --> b/c/ of Robertsonian translocation between Chromosome 21 and 13, 14, 15, or 22 2-3% --> Mosaic
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| How is prenatal screening done for trisomy 21? | show 🗑
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| show | Extra autosome 18 usually b/c of the egg, limited chance of survival, 95% miscarry, maternal age effect.
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| show | low birth weight, severe mental retardation, small mouth, , low ears, tiny jaw, short sternum, clenched hands, rocker bottom feet, heart defects
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| show | Extra autosome 13, 95% miscarry, 95% die within the first 6 monthsextra chromosome is donated by the egg, translocations are common.
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| show | Microencephaly, holoprosencephaly, severe mental retardation, facial clefts, small abnormally shaped eyes, ASD, polydactyly
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| show | monosomy X --> inherits one X chromosome, and no second sex chromosome, all are female because you need a Y chromosome to become Male.
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| show | cystic hygroma about the neck, prenatal lymph blockage --> webbed neck, puffy hands and feet, low set ears. Left sided heart disease, VSD, COARCTATION OF THE AORTA!!!
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| Adult phenotype of Turner's syndrome | show 🗑
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| show | Only 50% are complete 45,X, mosaicism is very common too.
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| Describe Kleinfelter's syndrome | show 🗑
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| Phenotype of Kleinfelter's syndrome | show 🗑
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| How are imprinted genes expressed? | show 🗑
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| show | deletion on the father's chromosome 15, (POP), and the mother's chromosome is turned off.
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| show | Deletion on mother's chromosome 15 (Mother's are angels), and the chromosome is turned off.
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| show | Obesity (lock the fridge), hypotonia, outbursts of extreme violence, IQ's of 60-70, down turned mouth, hypogonadism
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| show | "Happy Puppet" syndrome, because of specific ataxia. paroxysmal laughter, no speech, severe mental retardation
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| Fragile-X repeats and mode of inheritance | show 🗑
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| show | CAG and autosomal dominant (anticipation is more likely to occur when the gene is passed from father to child)
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| Describe Anticipation vs. Amplification | show 🗑
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| show | <40 CGG = no fragile X >200 CGG = have fragile X between 40 and 200 will not show classical fragile X, but will expand in the offspring.
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| show | IQ of 35-50, long face, big jaw, big ears, big balls (females have milder features)
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| How to detect Fragile-X? | show 🗑
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| show | <26 = asymptomatic 27-35 = not symptomatic, but may have a child with an allele in the mutant range 36-39 May or may not develop symptoms if HD in their lifetime >40 Huntington Disease >60 Will get Huntington's before age 21
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Created by:
lowrange4wd