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14 Cards in this Set
- Front
- Back
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achondroplasia
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- autosomal dominant
- cell signaling defect in the FGF receptor (constant activation of the receptor inhibits chondrocyte proliferation) -associated w/ advanced paternal age |
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adult polycystic kidney disease
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- autosomal dominant
- really fucked up cystic kidneys, can spread to liver - hematuria, HTN, progressive renal failure - mutation in APKD1 on CHROMOSOME 16 - associated with berry aneurysms, mitral valve prolapse |
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familial adenomatous polyposis
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- CHROMOSOME 5 deletion
- autosomal dominant - progresses to colon cancer unless resected |
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familial hypercholesterolemia (Type IIA hyperlipidemia)
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- autosomal dominant
- elevated LDL due to defective LDL receptor - tendon xanthomas, severe athleroscerosis early on, opaque rings in eye |
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huntington disease
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- autosomal dominant
- CHROMOSOME 4. CAG trinucleotide repeat - decreases GABA & ACh in brain - depression, progressive dementia, chorea, caudate atrophy |
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marfan's syndrome
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- fibrillin gene mutation
- long fingers/toes, hyperextensible joints - CYSTIC MEDIAL NECROSIS OF AORTA predisposes to dissecting aortic aneurysms (cystic medial necrosis of aorta), mitral valve prolapse too, lens subluxation |
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neurofibromatosis type I
(von recklinghausen's) |
- cafe-au-lait spots, Lisch nodules (pigmented iris hamartomas), neural tumors, skin neurofibromas
- associated w/ pheochromocytoma - skeletal disorders - **optic pathway gliomas -- increased tumor susceptibility - CHROMOSOME 17 |
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neurofibromatosis type 2
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- bilateral acoustic neuroma
CHROMOSOME 22 |
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von Hippel-Lindau
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- deletion of VHL gene on CHROMOSOME 3
-hemagioblastomas of retina/cerebellum/medulla - BILATERAL RENAL CELL CARCINOMA - |
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fragile X syndrome
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- x linked defect affected the methylation & expression of the FMR1 gene
- trineucleotide CGG repeat - big balls, autism, 2nd most common cause of mental retardation |
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down syndrome
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- trisomy 21
- congenital problems: duodenal atresia, ASD (septum primum type) - associated with increased risk of ALL & alzheimers - ↓ alpha fetoprotein, ↑ hCG, ↓ estriol, ↑ inhibin A |
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edward's syndrome
trisomy 18 |
- mental retardation, rocker bottom feet, small jaw, low set ears
- death occurs within 1 yr |
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patau's syndrome
trisomy 13 |
- mental retardation, rocker feet, cleft lip/palate, holoprosencephaly, polydactyly
-death occurs within 1 yr |
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**tuberous sclerosis**
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- neurocutanous disorder
- adenoma sebaceum (facial lesions) -hypopigmented ash-leaf spots - cortical & retinal hamartomas - CARDIAC RHABDOMYOMAS - increased incidence of astrocytomas - incomplete penetrance |
