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8 Cards in this Set

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enzyme deficient in Gauchers disease
glucocerebrosidase
symptoms of Gauchers type 1
Usually Affects adults
Ashkenazi Jews more at risk.
anemia
fatigue
enlarged spleen & liver
bone pain & fracture
symptoms of Gauchers type 2
Affects infants.
Liver and spleen enlargement are apparent by 3 months of age. Patients have extensive and progressive brain damage and usually die by 2 years of age.
symptoms of Gauchers type 3
Juvenile Onset
Liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent
Gauchers is a ________ genetic disorder
autosomal recessive disorder
pattern of inheritance for fragile X most closely resembles
X-linked dominant with variable penetrance
anticipation
characteristic of fragile X- syndrome worsens with each successive generation
fragile X shows tandom repeats in the _____ nucleotides
CGC