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17 Cards in this Set
- Front
- Back
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Diseases with abnormal chromosome number [5]
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Down Syndrome
Trisomy 13 Trisomy 18 Turner Syndrome (XO) Klinefelter Syndrome (XXY) |
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Disease that are (or at least have the potential to be) autosomal DOMINANT [8]
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Marfan Syndrome
Achondroplasia Neurofibromatosis Familial Adenomatous Polyposis BRCA I/2 Li Fraumeni Retinoblastoma Huntington Chorea |
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Diseases that are (for all intents and purposes) autosomal recessive (not including a certain someone whose initials are RB) [7]
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Cystic Fibrosis
Tay Sachs PKU Galactosemia Sickle Cell Disease Gaucher Disease Storage Disorders |
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X-linked (recessive or hemizygous dominant) [as listed in the outline, only 3]
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Fabry Storage Disorder and Hunter Syndrome (storage disorders)
Fragile X Syndrome Duchenne Muscular Dystrophy |
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Diseases with missing/compromised tumor suppressors [5]
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Neurofibromatosis
Familial Adenomatous Polyposis BRCA I/2 Li Fraumeni Retinoblastoma |
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Losing tumor suppressors sucks...
Li Fraumeni loses ____ ? |
p53
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List the trisomies in order of least to most common [3]
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13 (1/20,000), then 18 (1/7500), then 21 (1/800)
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Diseases featuring anemia as a clinical manifestation [2]
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Sickle Cell (B hemoglobin)
Gaucher's (glucocerebrosidase) |
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Disease with: (aortic stenosis), dev delay, very talkative, dysmorphics: broad mouth, big ears, small chin; hypotonia, anxiety, short, calcium abnormalities
hint: cocktail party syndrome (a real talker) |
Williams Syndrome (7q11.2)
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Symptoms for the repeat expansion diseases [2 disease]
what is the trinucleotide sequence that gets expanded in each disease? |
Huntington Chorea: adult onset CNS degeneration, motor/cognitive/behavior issues; UNTREATABLE
CAG polyglutamine expansion Fragile X: mental r., large head, long face, prominent jaw, ADHD CGG repeat expansion in FMR1 gene |
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Diseases for which the chromosome region was listed (there were 5 of them):
Which one involved this... Obese, food-seeking, mental r., |
Prader Willi Syndrome (paternal 15q11-13)
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Diseases for which the chromosome region was listed (there were 5 of them):
Which one involved this... Seizures, mental r., puppet syndrome, microcephaly |
Angelman Syndrome (maternal 15a11-13)
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Diseases that produce movie star sidekicks/villains (very short and very tall people)
[4] |
Klinefelter Syndrome (XXY, tall)
Marfan Syndrome (fibrin, tall) Achondroplasia (FGRGR3, short) Turner Syndrome (XO) |
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Diseases affecting the eyes, vision, eye placement, etc. [8]
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Trisomy 13
Marfan Syndrome (ectopia of the lens) Neurofibromatosis Retinoblastoma 22q11.2 Syndrome Down Syndrome (vision) Galactosemia (cataracts = cloudy lens) Tay-Sachs (cherry red spot) |
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This disease doesn't have an official name, but it is related to DiGeorge's. What is the key immunological symptom? See, now you're studying for two tests at once.
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22q11.2 Syndrome
Loss/partial loss of thymus |
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Diseases with mental retardation [5]
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Down Syndrome
Trisomy 18 Fragile X Syndrome Angelman Syndrome Prader Willi Syndrome |
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What is one way to fully determine if Retinoblastoma is caused by a germline mutation?
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If it's bilateral (however, unilateral could be germline as well)
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