作者lunar0930 (大王)
看板CSMU-MED93
标题Re: [小儿] 苏本华考讯
时间Sat Apr 19 00:01:27 2008
※ 引述《lunar0930 (大王)》之铭言：
: 今天早上去找苏本华医师
: 她好心给了4题题目(总共出6题)
: 题目是英文
: 因为我英打慢
: 题目晚点再附上
: 请还没念的同学先念别本吧
(C)1.X-link hypophosphatemic rickets(选错)
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)(选错)
A.Urinary excretion: Dermatan and heparan sulfate
B.Coarse face
C.Autosomal recesive disease
D.Stiff joints
(D)3.Fragile X syndrome(选错)
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(选错)
A.More likely to occur at older paternal age
B.Mental deficiency
C.Full 21 Trisomy 占95%
D.Translocation case and mosaicism case 占5%
*paternal = 父亲的
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