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32 Cards in this Set
- Front
- Back
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Disease with X Dom inheritance
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Hypophosphatemic rickets
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Disease with Mito inheritance
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Leber's optic neuropathy
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Quad sign of Down
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down aFP, down estriol
up B-hCG, up inhibin A |
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Tuberous Sclerosis
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AD
ash leaf spots, MR, renal lipomyomas, cardiac rhabdomyomas |
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Duchenne's
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XR
frame shift deletion of dystrophin muscle weakness with fatty replacement of calves |
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Patau's
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trisomy 13
sever MR, cleft palate, holoprosencephaly, polydactyly |
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Achondroplasia
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AD
FGF-R3 defect --> dwarfism |
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Edwards
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trisomy 18
severe MR, rocker feet, small jaw, clenched hands, heart disease |
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Fragile X
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XR
CGC repeat, large jaw, ears, testes autism |
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Osler-Weber-Rendu
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AD
telangectasia, epistaxis, AVM |
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Osteogenesis Imperfecta
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AD
Type 1 collagen glycosylation defect brittle bones, blue sclera |
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APKD
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AD
APKD1 mut on 16 bilateral cystic kidneys, berry aneurysms |
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Ehler Danlos
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Type 3 collagen extracellular cleavage defect
hyperextensible skin, joints, bleeding |
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Alport's
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XR
Type IV collagen defect nephritis, deafness |
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vHL
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AD
VHL deletion on 3 hemangioblastomas of retina/brain bilateral renal carcinomas |
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Cri du Chat
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udeletion on 5p
microcephaly, MR, mewing, heart abns |
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NF2
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AD
NF2 mutation on 22 bilateral acoustic neuromas, juvenile cataracts |
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NF1
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AD
mut on 17 cafe au lait, neurofibromas, skeletal disorders, pheo |
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4 diseases with trinucleotide repeats
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Huntingtons (CAG)
Friedrich's Ataxia (GAA) Fragile X (CGC) Myotonic Dystrophy (CTG) |
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Down
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trisomy 21
MR, alzheimer's |
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Prader Willi
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Paternal deletion of 15
MR, fat, hypogonadism |
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Hereditary Spherocytosis
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AD
Ankyrin defect --> macrocytic anemia, hemolytic anemia |
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Marfan's
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AD
fibrillin defect cystic medial necrosis of aorta floppy mitral valve |
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Huntington's
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AD
CAG repeat on 4 progressive dementia, chorea, decreased GABA and ACh |
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CF
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AR
phe deletion in CFTR on 7 recurrent lung infections, pancreatic insufficiency, infertility |
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FAP
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AD
Deletion of APC on 5 tons of adenomatous polyps |
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Williams
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udeletion of 7q
elf face, MR, friendly, CV problems |
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velocardiaofacial
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22q11 udeletion
cleft palate, heart defects |
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Angelman's
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no maternal 15
happy puppet seizures, ataxia |
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Becker's
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XR
dystrophin mutation less sever than DMD |
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Familial Hypercholesterolemia
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AD
defective or absent LDL high chol, atherosclerosis, xanthomas |
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DiGeorge
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22q11 udeletion
thymic and parathyroid aplasia cardiac defects |
