First Aid Buzzwords Flashcards
(235 cards)
Self-mutilation/excess uric acid
Lesh-Nyhan syndrome
Nucleotide excision repair defect
Xeroderma pigmentosum
Mismatch repair defect
HNPCC
Nonhomologous end joining defect
ataxia telangiectasia
Partial albinism/recurrent infections
Chediak-Higashi syndrome
Situs inversus/recurrent sinusitis
Kartagener’s syndrome
Defect type I collagen/blue sclera
osteogenesis imperfecta
Defect in type III collagen
Ehlers-Danlos
Defect in type IV collagen
Alport syndrome
Defect in fibrillin-1/collagen cross linking
Marfan’s syndrome
Imprinting
Prader-Willi (paternal)
Angelman’s (materanal)
FGF3 receptor defect
Achondroplasia
APC gene/chromosome 5
Familial adenomatous polyposis
Lisch nodules
Neurofibromatosis 1 (von Recklinghausen’s)
Ret gene mutations
MEN 2A and 2B
Ash leaf spots
Tuberous sclerosis
deletion of Phe 508
Cystic fibrosis
Pseudohypertrophy of calves
Duchenne’s muscular dystrophy
FMR1 gene/hypermethylation
Fragile X syndrome
CGG repeat
Fragile X syndrome
CAG repeat
Huntington’s
GAA repeat
Friedreich’s ataxia
CTG repeat
Myotonic dystrophy
Micrognathia/low set ears
Edwards syndrome