a. skeletal changes that include long, thin extremities, frequently associated with loose joints
b. reduced vision as the result of dislocation of the lenses (ectopia lentis)
c. aortic root dilation and aortic aneurysms
d. hypertrophic cardiomyopathy
2q: what is the mutation seen in type 1 marfan’s syndrome ?
a. fibrillin-1 ( FBN1 ) gene
b. transforming growth factor beta receptor 2 ( TGFBR2 ) gene
c. nephrin gene
d. tubulin gene
3q: what is the mutation most commonly associated with type 2 marfan’s syndrome ?
a. fibrillin-1 ( FBN1 )gene
b. transforming growth factor beta receptor 2 ( TGFBR2 ) gene
c. nephrin gene
d. tubulin gene
4q: type 2 marfan’s syndrome patients are similar to type 1 marfan’s syndrome patients in all except ?
a. skeletal changes
b. ocular changes
c. aortic aneursyms
d. heart valve diseases
5q: mutations in both TGFB1 and TGFB2 genes are found in which syndrome ?
a. Kelly seeg miller syndrome
b. Loeys-dietz aneurysm syndrome ( LDAS )
c. Capgras syndrome
d. Lafora’s syndrome
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