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20 Cards in this Set
- Front
- Back
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PKU (Phenylketonuria)
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**Phenylalanine hydroxylase Defect**
Phenyl-a intake --> phenylketone (mental retard) No melanin, fair skin Mother-->Fetus |
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Porphyria
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Not enough enzyme for heme/O2 carry
Red in face (Autosomal Dominant) |
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Familial Hypercholesterolemia
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Complex pathway, cholesterol removal problem due to LDL receptors.
(Autosomal Dominant) |
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Osteogenesis Imperfecta
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defect in COLLAGEN 1 subunit
Always also get DI type 1 (Autosomal Dominant) |
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Dentinogenesis Imperfecta (DI) Type 2
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DI in the absence of OI
Obliterated root canals, pulp chambers absent... |
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Achondroplasia (Auto-Dom)
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FGF-3 Defect, --> DWARFISM
Homozygous FGF-3 = dead Cartilage problems, bowlegs, heavy brow... Max. hypoplasia Small foramen magnum |
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Marfan Syndrome (Auto-Dom)
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Fibrillin I/II gene defect
High palate/tooth crowding Off-center lenses/myopia AORTIC dissection (bv's not elastic enough) Dumbledore |
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Amelogenesis Imperfecta 1E (X-Linked)
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Hypoplastic enamel in males
Mother has lyonization |
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Example of Heterzygote Advantage?
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Sickle Cell Anemia + Cystic Fibrosis pts are resistant to Malaria+Tb
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Leber Hereditary Neuropathy
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Mitochondrial inheritance, get it from mother only.
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Prader-Willi Syndrome
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Deletion of 15 from dad
Hypotonia (weak muscles), obese, tall, some MR, tiny ntus |
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Angelman Syndrome
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Deletion of 15 from mom.
Happy 90's kid picture. Ataxic gate, severe MR, |
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Trinucleotide Repeat Diseases
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Too many 3 nuc repeats
Huntington's Kennedy's Fragile X |
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Cleft Lip / Palate
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Multifactorial inheritance (like in diabetes/MS/hypertension...)
Folate and B6 decrease. Reason for giving these vits during preg |
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Williams Syndrome
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Microdeletion
Happy Puffy starbursts w/ curls Spatial learning problem Wide spaced teeth Enamel hypoplasia |
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Robersonian translocation
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ex 14 attaching to 13...
Will have gametogenesis problems. Might be sterile. Can result in down's syndrome. |
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Trisomy 21 (Down's)
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Have 47 chromosomes
Leading cause of MR Epicanthic folds / flat face / simian crease. Leukemia/Alz increased risk. |
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Turner's Syndrome
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Monosomy X.
Webbed neck, short, low neckline, no 2nd sex chars, high palate STERILE AORTA/KIDNEY malform |
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Klinefelter Syndrome
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XXy, XXXXy...
Male, but with gynecromastia (boobs) + tiny nuts STERILE Long torso, curves, mild MR |
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XYY XYYY?
XXX, XXXXX? |
Normal
Normal, due to lyonization |
