※ 引述《lunar0930 (大王)》之銘言:
: 今天早上去找蘇本華醫師
: 她好心給了4題題目(總共出6題)
: 題目是英文
: 因為我英打慢
: 題目晚點再附上
: 請還沒唸的同學先念別本吧
(C)1.X-link hypophosphatemic rickets(選錯)
A.X-link dominant disorder
B.The gene of PHEX has been mapped
C.Low serum phosphate level and low calcium level
D.Bowing of femoral bone and prematurely lost of teeth
(C)2.Hunter Syndrome(Mucopolysaccharidosis Ⅱ)(選錯)
A.Urinary excretion: Dermatan and heparan sulfate
B.Coarse face
C.Autosomal recesive disease
D.Stiff joints
(D)3.Fragile X syndrome(選錯)
A.Fragile X syndrome are cause by a dynamic mutation of FMR1 gene
B.unstable expansion of trinucleotide(CGG)repeat
C.premutation range from 50 to 200
D.full mutation result in hypomethylation
(A)4.Down Syndrome(選錯)
A.More likely to occur at older paternal age
B.Mental deficiency
C.Full 21 Trisomy 佔95%
D.Translocation case and mosaicism case 佔5%
*paternal = 父親的
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